Craniofacial

Question 1

Which of the following synostoses is most predictably treated with endoscopic suturectomy and postoperative orthotic molding?
A)Coronal
B) Lambdoidal
C) Metopic
D) Sagittal
E) Squamosal

Answer 1

D) Sagittal

Question 2

What synostosis is most predictably treated with endoscopic suturectomy and postoperative orthotic molding?

Answer 2

Sagittal

Question 3

Ideal time frame for endoscopic treatment of sagittal suturectomy

Answer 3

The ideal time frame is between 2 to 4 months of age.

Question 4

Treatment of squamosal synostosis

Answer 4

Squamosal synostosis generally does not require surgical intervention

Question 5

A 3-day-old female newborn is in the neonatal intensive care unit because of airway obstruction, micrognathia, glossoptosis, and cleft palate. Placement of the patient in the prone position has failed to stabilize the airway. Which of the following is the most appropriate immediate next step in management?
A) Endotracheal intubation
B) Mandibular distraction
C) Tongue-lip adhesion
D) Tracheostomy

Answer 5

A) Endotracheal intubation

Question 6

Pierre Robin sequence

Answer 6

The Pierre Robin sequence consists of micrognathia or retrognathia, glossoptosis, and airway obstruction (with or without cleft palate). Cleft palate isa frequently associated feature, but not cleft lip. There is little evidence of genetic transmissions. The retrognathia is believed to contribute to the glossoptosis, which in turn produces the airway obstruction.

Question 7

Initial management of Pierre Robin airway

Answer 7

Initial management is conservative. Pronepositioning is the mainstay of initial airway management. Upright feedings, the use of nasogastric tubes, and endotracheal intubation may assist with the early management of the child

Question 8

Before undertaking any operative intervention designed to address the glossoptosis of Pierre Robin, what should be done?

Answer 8

Before undertaking any operative intervention designed to address the glossoptosis, such as mandibular distraction or tongue-lip adhesion, a nasoendoscopy is recommended. This is performed to rule out other anatomical sites or causes of airway obstruction.

Question 9

Reasonable first line surgical treatment for airway obstruction arising only from glossoptosis

Answer 9

For airway obstruction arising only from glossoptosis, a tongue-lip adhesion is a reasonable first treatment option. This procedure is most effective in infants with good prospects for mandibular growth early in infancy (ie, Stickler syndrome, velocardiofacial syndrome, nonsyndromic patients).

Question 10

When to consider mandibular distraction first for glossoptosis

Answer 10

In some syndromes with poor mandibular growth potential, such as Treacher Collins syndrome or facial microsomia, or when the degree of mandibular hypoplasia or retrusion is particularly severe, mandibular distraction may provide a more effective management option.

Question 11

A 6-week-old female infant is brought to the office for evaluation of a skull deformity that makes them look like a cupie doll. Physical examination shows the absence of calvarial bone in multiple areas of the cranium. CT scan confirms a kleeblattschädel skull deformity. Which of the following is the most likely indication for surgical intervention at this time?
A)Airway compromise
B) Hydrocephalus
C) Increased intracranial pressure
D) Loss of vision
E) Orbital exposure

Answer 11

C) Increased intracranial pressure

The kleeblattschädel skull deformity occurs secondary to multiple suture synostoses. This results in a significant increase in intracranial pressure that causes the skull deformity shown in the CT scan. The increase in intracranial pressure produces a moth-eaten appearance and is the reason for early surgical intervention.

Question 12

Kleeblattschädel skull deformity

Answer 12

The kleeblattschädel skull deformity occurs secondary to multiple suture synostoses. This results in a significant increase in intracranial pressure that causes the skull deformity shown in the CT scan. The increase in intracranial pressure produces a moth-eaten appearance and is a reason for early surgical intervention.

Question 13

Moth eaten appearance of a skull

Answer 13

An increase in intracranial pressure produces a moth-eaten appearance and is a reason for early surgical intervention.

Question 14

A 6-year-old boy is brought to the office because of persistent hypernasal speech. He has a history of cardiac anomalies and learning difficulties. Physical examination shows a broad nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess. Intraoral examination shows a bifid uvula and a palpable notch of the posterior nasal spine. Which of the following imaging studies is most appropriate prior to surgical intervention?
A)Carotid angiography
B) MRA of the head and neck
C) PET scan of the brain
D) Renal ultrasonography

Answer 14

B) MRA of the head and neck

The patient described appears to have velocardiofacial syndrome, an autosomal dominant condition caused by a deletion of the long arm of chromosome 22. Manifestations of velocardiofacial syndrome include cleft palate, velopharyngeal insufficiency, and cardiac abnormalities

Question 15

Velocardiofacial syndrome general overview

Answer 15

The patient described appears to have velocardiofacial syndrome, an autosomal dominant condition caused by a deletion of the long arm of chromosome 22. Manifestations of velocardiofacial syndrome include cleft palate, velopharyngeal insufficiency, and cardiac abnormalities
MRA is the diagnostic study of choice for detecting abnormalities of the carotid vasculature, notably medialization, which may complicate palatal or pharyngeal surgery.

While carotid angiography would yield similar information, it is too invasive.

Question 16

Abnormal features associated with velocardiofacial syndrome

Answer 16

Abnormal facial features associated with this syndrome include a broad, prominent nose, malar flattening, epicanthal folds, retrognathia, and vertical maxillary excess.

Question 17

Important preoperative testing for velocardiofacial syndrome

Answer 17

MRA is the diagnostic study of choice for detecting abnormalities of the carotid vasculature, notably medialization, which may complicate palatal or pharyngeal surgery.

Question 18

A 16-year-old girl is brought to the office for consultation regarding reconstruction to correct hemifacial atrophy. The parents first noticed the condition when the patient was 6 years old; it has been stable for 18 months. Physical examination shows an asymmetric face with atrophy of the right side. There is significant unilateral atrophy of skin, subcutaneous tissue, and bone. Facial reconstruction is planned. Which of the following is the most appropriate method of reconstruction?
A) Latissimus dorsi free flap
B) Omental free flap
C) Osteocutaneous fibula flap
D) Parascapular free flap
E) Silicone injection

Answer 18

D) Parascapular free flap

Muscle and myocutaneous flaps are not ideal, as they can be too bulky, and the eventual muscle atrophy leads to unpredictable long-term results. Omental flaps for facial recontouring have been described, but they have several drawbacks. These include the need for an intra-abdominal harvest and the difficulty in long-term flap fixation, with eventual descent given the absence of dermal or fascial components to be used in fixation. The parascapular flap provides a versatile source of composite tissue that remains relatively stable as it matures, and it provides tissue components for appropriate fixation.

Question 19

Appropriateness of parascapular free flap for Romberg disease

Answer 19

The parascapular flap provides a versatile source of composite tissue that remains relatively stable as it matures, and it provides tissue components for appropriate fixation.

Question 20

Drawbacks of omental flaps for facial recontouring

Answer 20

Omental flaps for facial recontouring have been described, but they have several drawbacks. These include the need for an intra-abdominal harvest and the difficulty in long-term flap fixation, with eventual descent given the absence of dermal or fascial components to be used in fixation.

Question 21

Muscle and myocutaneous flaps for facial recontouring

Answer 21

Muscle and myocutaneous flaps are not ideal, as they can be too bulky, and the eventual muscle atrophy leads to unpredictable long-term results.

Question 22

A 3-year-old boy is brought to the office because of a congenital soft tissue notch of the lower lateral eyelid. Which of the following is the most appropriate Tessier classification for the underlying craniofacial cleft?
A) Tessier No. 3
B) Tessier No. 4
C) Tessier No. 6
D) Tessier No. 10

Answer 22

C) Tessier No. 6

Question 23

Tessier No. 3

Answer 23

The Tessier No. 3 cleft defect symptoms include a defect between the lateral incisors and canine. This cleft typically involves the alar base and medial canthal region. In severe cases, the cleft may enter the orbit medial to the punctum.

Question 24

Tessier No. 4

Answer 24

Tessier No. 4 facial clefts extend from the upper lip, around the alar base, along the nasomaxillary junction, and across the tear duct and medial orbital tissues.

Question 25

Tessier No. 6

Answer 25

Tessier No. 6 facial clefts may disrupt bone and soft tissues along the lower lateral orbit. These defects are frequently associated with colobomas of the lower eyelid.

Question 26

Tessier No. 10

Answer 26

Extending into the frontal bone, Tessier No. 10 clefts involve the superior orbital rim and medial third of the orbit. Proptosis with fronto-orbital encephalocele may be present with significant clefts at this location.

Question 27

Tessier No. 7

Answer 27

No. 7 clefts may produce macrostomia and extend through the lateral zygomatic arch.

Question 28

``` A 40-year-old Caucasian woman comes to the office for consultation because she is dissatisfied with the appearance of her smile. Physical examination shows bilabial incompetence, malocclusion, a retrusive chin, and a gummy smile. Cephalometric analysis shows decreased SNA and SNB angles. Which of the following is the most likely diagnosis? A) Mandibular deficiency B) Mandibular excess C) Maxillary retrusion D) Vertical maxillary deficiency E) Vertical maxillary excess ```

Answer 28

E) Vertical maxillary excess Long-face deformity (vertical maxillary excess) is characterized by an increase in the lower third of the face. A gummy smile is associated with this deformity. The mid facial appearance is flattened. Although all types of Angle occlusion patterns are possible, type II is most common.

Question 29

Long-face deformity

Answer 29

Long-face deformity (vertical maxillary excess) is characterized by an increase in the lower third of the face. A gummy smile is associated with this deformity. The mid facial appearance is flattened. Although all types of Angle occlusion patterns are possible, type II is most common.

Question 30

Maxillary retrusion

Answer 30

Maxillary retrusion is associated with maxillary hypoplasia and often a shortening of the lower vertical facial height. Angle class III malocclusion is seen with this deformity, and cephalometric analysis shows a decreased SNA angle but an increased SNB angle.

Question 31

Vertical maxillary deficiency

Answer 31

Vertical maxillary deficiency, although often associated with Angle class II malocclusion, results in shortening of the lower third of the face, and the teeth are not seen in repose. SNA and SNB angles are frequently increased in this deformity

Question 32

``` Which of the following syndromes is most commonly associated with Pierre Robin sequence? A) Beckwith-Wiedemann B) Facial microsomia C) Stickler D) Treacher Collins E) Velocardiofacial ```

Answer 32

C) Stickler

Question 33

Developmental sequence

Answer 33

A pattern of multiple anomalies derived from a single known or presumed prior anomaly or mechanical factor.

Question 34

Underdevelopment of the mandible in Pierre Robin sequence

Answer 34

The underdeveloped (micrognathia) or retropositioned (retrognathia) mandible limits space for the growing tongue and forces it to assume a posterior/elevated position in the oropharynx (glossoptosis). This leads to delayed elevation/fusion of the palatal shelves (cleft palate) and respiratory distress.The mandibular anomaly in Pierre Robin sequence is causally heterogeneous and can result from either a malformation (eg, Stickler syndrome), a disruption (eg, amniotic band syndrome), or deformation (eg, oligohydramnios).

Question 35

Stickler syndrome

Answer 35

Over 40% of Pierre Robin sequence patients are Stickler. It is caused by one of three collagen mutations (type II, COL2A1 is the most common) Stickler patients have wide phenotypic variability that often results in delayed or missed diagnosis in minor cases. Clinical findings associated with Stickler syndrome are ocular problems (retinal detachment, myopia, and blindness), facial abnormalities (flat nose, small mandible, or cleft palate), hearing loss, and degenerative joint disease and pain.

Question 36

``` A 2-month-old male infant is brought to the office because of mid face hypoplasia, craniosynostosis, and bilateral hand and foot anomalies. A photograph of the left foot is shown. This patient most likely has which of the following syndromes? A) Apert B) Crouzon C) Goldenhar D) Nager E) Treacher Collins ```

Answer 36

A) Apert This autosomal dominant syndrome is characterized by bicoronal craniosynostosis that leads to turribrachycephaly, mid face hypoplasia, and complex hand and feet syndactyly.

Question 37

Heredity of Apert syndrome

Answer 37

Autosomal dominant

Question 38

Apert syndrome overview

Answer 38

This autosomal dominant syndrome is characterized by bicoronal craniosynostosis that leads to turribrachycephaly, mid face hypoplasia, and complex hand and feet syndactyly.

Question 39

Heredity of Crouzon syndrome

Answer 39

Autosomal dominant

Question 40

Crouzon syndrome overview

Answer 40

Patients with Crouzon syndrome, an autosomal dominant disorder, typically have craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. Other findings includemid face hypoplasia, exorbitism, and proptosis. The extremities are normal.

Question 41

Goldenhar syndrome overview

Answer 41

Goldenhar syndrome, or oculoauriculovertebral dysplasia, involves asymmetry of the hard and soft tissues of the face. This condition is most commonly unilateral but may be seen bilaterally in some patients. Manifestations of this syndrome include hypoplasia involving the mandible and underlying soft tissues of the face, epibulbar dermoids, and varied degrees of microtia on the affected side. Most patients have associated vertebral abnormalities.

Question 42

Nager syndrome overview

Answer 42

Nager syndrome, or acrofacial dysostosis, is an autosomal recessive disorder characterized by craniofacial and upper extremity abnormalities. Patients with Nager syndrome have hypoplasia of the orbits, zygoma, maxilla, mandible, and soft palate. Auricular defects may also be present. Hypoplasia or agenesis occurs in the radius, thumbs, and metacarpals. Some patients may have radioulnar synostosis and elbow joint deformities. *can also have mental retardation

Question 43

Heredity of Nager syndrome

Answer 43

Autosomal recessive

Question 44

Treacher Collins syndrome

Answer 44

Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.

Question 45

Treacher Collins syndrome heredity

Answer 45

Autosomal dominant w/ variable penetrance

Question 46

Goldenhar syndrome heredity

Answer 46

Unknown

Question 47

``` A 38-year-old man comes to the office because of facial asymmetry and pain in the left mid face. The pain began 3 years ago. Physical examination shows atrophy of the temporal and mid facial soft tissue and bone. A photograph is shown w/ hemifacial atrophy. Which of the following is the most likely diagnosis? A) Bell palsy B) Hemifacial microsomia C) Parry-Romberg syndrome D) Torticollis E) Treacher Collins syndrome ```

Answer 47

C) Parry-Romberg syndrome

Question 48

When does Parry-Romberg syndrome usually onset?

Answer 48

It typically appears between the ages of 5 and 15 years.

Question 49

Possible skin changes of Parry-Romberg syndrome

Answer 49

Overlying skin can become hyperpigmented

Question 50

Where does Parry-Romberg syndrome usually begin?

Answer 50

Facial atrophy usually begins in the temporal and/or nasolabial fold region and progresses to involve the mouth, the area around the eye, and the brow.

Question 51

End point of Parry-Romberg syndrome

Answer 51

The atrophy may progress slowly and plateau, or it may progress indefinitely. Many patients go on to develop atrophy of half of the upper lip and tongue and exposure or damage to the roots of teeth on the affected side.

Question 52

Bell palsy

Answer 52

Bell palsy is a mononeuropathy involving cranial nerve VII and the facial nerve; it results in unilateral facial nerve paralysis. It is not usually self-limiting but may result in residual weakness in rare cases.

Question 53

Hemifacial microsomia

Answer 53

Hemifacial microsomia is a congenital anomaly involving an underdevelopment of either one or both sides of the face. It more commonly affects the lower half of the face, resulting in mandibular hypoplasia, microtia, and vestigial remnants. Hemifacial microsomia is the second most common facial congenital deformity, after cleft lip and palate

Question 54

Two most common congenital facial defects

Answer 54

Cleft lip / Palate, followed by hemifacial microsomia

Question 55

Torticollis

Answer 55

Torticollis involves tightness of the sternocleidomastoid muscle of the neck resulting in a head tilt toward the affected muscle. Patients may have a mild underdevelopment of the lower half of the face on the affected side secondary to deformational pressure. Torticollis is generally congenital, thought to be secondary to intrauterine positioning, and is treated with physical therapy

Question 56

A 12-month-old boy is referred by his pediatrician for possible craniosynostosis. He is healthy and has achieved developmental milestones appropriately. His parents report that he has a ridge on his forehead that they first noticed when he was 3 months of age. Physical examination shows a palpable midline ridge with normal facial contour. CT scans obtained by his pediatrician are shown. Which of the following is the most appropriate management? A ) Diagnostic plain x-ray studies B ) Endoscopic strip craniectomy and postoperative helmet therapy C ) Fronto-orbital advancement D ) Serologic testing for mutations of fibroblast growth factor receptors 1, 2, and 3 E ) Observation

Answer 56

E ) Observation

Question 57

When does the metric suture fuse?

Answer 57

The metopic suture is different because unlike other calvarial sutures that ultimately fuse in the third decade of life, it normallycloses before 12 months of age

Question 58

Presence of an isolated metopic ridge

Answer 58

Normal variant

Question 59

What determines the need for operative intervention for metopic suture fusion?

Answer 59

A metopic ridge is a normal variant. It is the shape of the fronto-orbital region that determines the need for operative intervention (trigonocephally)

Question 60

What is the latest age where endoscopic strip craniotomy is effective?

Answer 60

Endoscopic strip craniectomy is generally not effective after 3 months of age

Question 61

``` An 11-year-old boy is brought to the office because of a 1-year history of progressive left-sided hemifacial atrophy. He has the classic coup de sabre appearance. Examination shows facial bony structures that are intact. Which of the following imaging studies is most appropriate to include in a diagnostic workup of this patient? A ) MRI of the abdomen B ) MRI of the brain C ) Plain x-ray study of the chest D ) Plain x-ray studies of the hands ```

Answer 61

B ) MRI of the brain

Question 62

Coup de sabre appearance

Answer 62

A curved, sharply demarcated, depressed and hyperpigmented linear groove seen on the frontoparietal scalp in progressive left-sided hemifacial atrophy

Question 63

Neurologic associations with Parry-Romberg syndrome

Answer 63

Neurologic symptoms are commonly associated with PRS, includingseizures, migraine, Horner syndrome, and hemiplegia. Various ophthalmologic conditions are also common. Abnormalities are frequently seen on MRI of the brain, even in the absence of neurologic symptoms, and therefore MRI of the brain is indicated such that these abnormalities might be investigated further as needed.

Question 64

Original description of progressive hemifacial atrophy

Answer 64

first described in 1825 by Parry and then in 1846 by Romberg.

Question 65

``` A 4-year-old girl is brought to the office for evaluation of hemifacial microsomia. Physical examination shows maxillary hypoplasia, orbital dystopia, and complete absence of the mandibular condyle. The presence of which of the following additional findings is most suggestive of Goldenhar syndrome? A ) Epibulbar dermoids B ) Facial nerve VII impairment C ) Midfacial port-wine stain D ) Multiple pits of the lower lip E ) Upper eyelid colobomas ```

Answer 65

A ) Epibulbar dermoids The presence of epibulbar dermoids is a key clinical finding that distinguishes Goldenhar syndrome from hemifacial microsomia. Although Goldenhar syndrome is also frequently associated with defects of cranial nerve VII, this finding is also commonly described in other craniofacial anomalies, including hemifacial microsomia.

Question 66

What distinguishes Goldenhar syndrome from hemifacial microsomia?

Answer 66

Epibulbar dermoids

Question 67

Port-wine stain present within the V1 or V2 distribution

Answer 67

A port-wine stain present within the V1 or V2 distribution is suggestive of potential Sturge-Weber syndrome

Question 68

Van der Woude syndrome is commonly associated with:

Answer 68

Van der Woude syndrome is commonly associated with lower lip pits (from accessory salivary glands) as well as cleft lip/palate

Question 69

``` An 8-year-old boy is brought to the office because he has been unable to smile, close his mouth, or completely close his eyes since birth. Physical examination shows facial immobility, strabismus, and syndactyly of the ring and little fingers. Which of the following is the most likely diagnosis? A ) Klippel-Tranaunay syndrome B ) Mobius syndrome C ) Pierre Robin sequence D ) Poland syndrome E ) Treacher Collins syndrome ```

Answer 69

B ) Mobius syndrome In most studies, Mobius syndrome is defined as congenital facial weakness combined with abnormal ocular abduction ― weakness of cranial nerves VII and VI. The typical phenotypic appearance of an affected individual includes an immobile facial appearance and ocular palsy. A mask-like facial appearance is pathoneumonic. Additional musculoskeletal abnormalities occur in one third of patients with Mobius syndrome.

Question 70

Mobius syndrome

Answer 70

In most studies, Mobius syndrome is defined as congenital facial weakness combined with abnormal ocular abduction €― weakness of cranial nerves VII and VI. The typical phenotypic appearance of an affected individual includes an immobile facial appearance and ocular palsy. A mask-like facial appearance is pathoneumonic. Additional musculoskeletal abnormalities occur in one third of patients with Mobius syndrome.

Question 71

Treacher Collins syndrome includes which clefts?

Answer 71

Considered the combination of Tessier No. 6, 7, and 8 clefts

Question 72

Typical features of Treacher Collins syndrome

Answer 72

downward slanting eyes, lower eyelid colobomas, micrognathia, conductive hearing loss, underdeveloped zygoma, and malformed or absent ears

Question 73

Poland syndrome associated upper extremity abnormalities

Answer 73

Syndactyly often occurs in the ipsilateral hand

Question 74

Klippel-Trenaunay syndrome

Answer 74

Klippel-Trenaunay syndrome is characterized by a triad of port-wine stain, varicose veins, and bony and soft-tissue hypertrophy involving an extremity

Question 75

A 2-day-old male newborn is evaluated in the neonatal intensive care unit because of a "jaw deformity" and difficulty breathing. The patient was born at term following an uncomplicated pregnancy and delivery. He responds appropriately to stimulation. Examination shows micrognathia, glossoptosis, and a cleft palate. The infant demonstrates retractions while breathing. Pulse oximetry shows an oxygen saturation of 92%. Which of the following is the most appropriate initial management? A ) CT scan of the head with three-dimensional reconstruction B ) Endoscopic evaluation of the airway C ) Prone positioning of the newborn D ) Tongue-lip adhesion E ) Tracheostomy

Answer 75

C ) Prone positioning of the newborn These patients have airway obstruction secondary to the large size of their tongue relative to their diminutive mandible. Placing them in prone position allows for the tongue and jaw to fall forward, frequently alleviating their airway problems.

Question 76

A 30-year-old woman comes to the office because of a 1-year history of a clicking sensation when she opens her mouth. She was involved in a motor vehicle collision in which her face struck the steering wheel 1 year ago. Physical examination shows midline dental structures without deviation. Which of the following is the most likely cause of this patient's condition? A ) Disruption of the lateral pterygoid muscle B ) Foreign body within the joint space C ) Malunion of a coronoid fracture D ) Nonunion of a condylar fracture E ) Subluxation of the articular disk

Answer 76

E ) Subluxation of the articular disk The sensation of clicking when the jaw is repeatedly opened and closed is usually caused by subluxation of the articular disk. Air within the joint space may occur following open fractures of the mandibular condyle. The presence of a foreign body within the joint space produces pain and decreased range of motion rather than clicking. Similar symptoms are also noted in patients with degenerative disease affecting the TMJ

Question 77

Sensation of clicking when the jaw is repeatedly opened and closed

Answer 77

Motion at the temporomandibular joint (TMJ) is best appreciated by placing one's fingers either inside the external auditory canal or just anterior to it. The sensation of clicking when the jaw is repeatedly opened and closed is usually caused by subluxation of the articular disk. The disk normally lies centrally between the two joint spaces.

Question 78

Conservative treatment for TMJ disk subluxation

Answer 78

Conservative treatment involves adjustment of the patient's bite with a splint, anti-inflammatory drugs, and physical therapy. Surgical treatment is reserved for patients who fail conservative therapy.

Question 79

``` A 2-month-old female infant is brought to the office because her parents are concerned about the flat appearance of her forehead that they first noticed 2 weeks ago. Physical examination shows flattening of the right side of the forehead and left side of the occiput, and the left ear is positioned farther forward than the right. A photograph is shown. Which of the following is the most appropriate initial management? A ) Calvarial vault remodeling B ) CT scan C ) MRI D ) Placement of a molding helmet E ) Repositioning exercises ```

Answer 79

E ) Repositioning exercises

Question 80

``` A 9-month-old boy is brought to the office because of a midline glabellar mass. The parents report that it has enlarged gradually since they first noticed it 6 months ago; it does not change in size when the patient cries. Physical examination shows a nonmobile, firm, and nontender mass. The nasal root is not broadened, and intercanthal distance is within normal limits. Which of the following is the most likely diagnosis? A ) Dermoid cyst B ) Encephalocele C ) Glioma D ) Hemangioma E ) Pilomatricoma ```

Answer 80

A ) Dermoid cyst The most likely diagnosis in the scenario described is a dermoid cyst. Nasal dermoids are the most common congenital nasal mass. Dermoid cysts most often occur in children in the lateral brow or midline glabellar region. They generally grow slowly, and intracranial communication should be ruled out with either a CT scan or MRI. Intracranial communication is less likely in this scenario because thereis no broadening of the nasal root or increased intercanthal distance

Question 81

Encephalocele

Answer 81

An encephalocele is a midline malformation that is present at birth and addressed shortly thereafter. On physical examination, it would be soft and mobile. CT scan or MRI would confirm this diagnosis. A hemangioma or encephalocele may change size with crying.

Question 82

Nasal dermoids

Answer 82

Nasal dermoids are the most common congenital nasal mass. Dermoid cysts most often occur in children in the lateral brow or midline glabellar region. They generally grow slowly, and intracranial communication should be ruled out with either a CT scan or MRI.

Question 83

Most common congenital nasal mass

Answer 83

Nasal dermoids

Question 84

Pilomatricoma

Answer 84

A pilomatricoma is a rare, benign, circumscribed epithelial neoplasm that is derived from hair matrix cells. It is classically not fixed and very superficial.

Question 85

``` A 15-year-old girl with a history of an optic glioma, multiple cafe-au-lait spots, and a large plexiform neurofibroma of the cheek comes to the office for evaluation. Which of the following best represents her lifetime risk of developing a malignant peripheral nerve sheath tumor? A ) Less than 15% B ) 20% to 35% C ) 40% to 60% D ) 65% to 80% E ) Greater than 85% ```

Answer 85

A ) Less than 15%

Question 86

Plexiform neurofibromas are clinically present in ___% of patients w/ NF1

Answer 86

25%

Question 87

Plexiform neuroma

Answer 87

his type of neurofibroma consists of a network of neurofibroma tissue and grows along the length of nerves, often involving multiple nerve fascicles, branches, and plexi.

Question 88

Malignant peripheral nerve sheath tumors develop in ___% of patients w/ NF1

Answer 88

Individuals with NF1 have a 7 to 13% lifetime risk of developing a malignant peripheral nerve sheath tumor (MPNST)

Question 89

Origin of most malignant peripheral nerve sheath tumors

Answer 89

Usually from a pre-existing plexiform neurofibroma

Question 90

``` A 28-year-old man with a skull tumor underwent resection with a resultant bony defect and exposed dura mater. A reconstructive alloplastic cranioplasty was performed, which was complicated by iatrogenic burns to the dura mater, underlying brain, and surrounding soft tissue. Which of the following alloplastic materials was most likely used? A ) High-density porous polyethylene B ) Methylmethacrylate C ) Nonceramic hydroxyapatite cement D ) Polytetrafluoroethylene E ) Silicone ```

Answer 90

B ) Methylmethacrylate

Question 91

``` Which of the following findings does NOT support a clinical diagnosis of posterior deformational plagiocephaly? A ) Anteriorly displaced ipsilateral ear B ) Horizontal and level skull base C ) Ipsilateral mastoid bulging D ) Ipsilateral occipital flattening E ) Parallelogram-shaped head ```

Answer 91

C ) Ipsilateral mastoid bulging

Question 92

Clinical presentation of deformation plagiocephaly

Answer 92

Clinically, posterior deformational plagiocephaly presents with ipsilateral occipital head flattening, ipsilateral forehead displacement, ipsilateral ear forward displacement, and an overall parallelogram-shaped head when viewed from the top-down position. The skull base is horizontal, level, and unaffected in posterior deformational plagiocephaly.

Question 93

Clinical presentation of unilateral lambdoid craniosynostosis

Answer 93

Unilateral lambdoid craniosynostosis presents with ipsilateral occipital flattening. Because the lambdoid suture is fused, compensatory growth, parallel to the fused suture, results in contralateral parietal bossing and ipsilateral mastoid bulging resulting in a canted skull base. This produces an overall trapezoid head shape when viewed from the top-down position

Question 94

A 6-month-old girl is brought to the office for evaluation of left anterior plagiocephaly. Physical examination shows posterior displacement of the ipsilateral supraorbital rim, deviation of the nasal root, and bossing of the right forehead. A three-dimensional CT is shown. Which of the following is the most appropriate management? A ) Fronto-orbital advancement B ) Molding helmet therapy C ) Monobloc advancement D ) Repositioning of the child during sleep

Answer 94

A ) Fronto-orbital advancement The patient described has unilateral coronal synostosis. The most common presenting symptom is ipsilateral anterior forehead flattening, or plagiocephaly. This finding can be seen in patients with deformational plagiocephaly. Several anatomic features can be used to differentiate these two different etiologies of plagiocephaly. In synostotic plagiocephaly, there is widening of the ipsilateral palpebral fissure, superior and posterior displacement of the supraorbital rim and eyebrow on the affected side, a higher ipsilateral ear, and deviation of the nasal root toward the affected side. The anterior fontanelle is displaced away from the affected side. The appropriate surgical procedure to correct synostotic plagiocephaly is a fronto-orbital advancement procedure. Resection of the left coronal suture will eliminate the abnormal suture but will notcorrect the other facial deformities.

Question 95

Appropriate surgical procedure to correct synostotic plagiocephaly

Answer 95

Fronts-Orbital advancement prodecure Resection of the left coronal suture will eliminate the abnormal suture but won't correct the other facial deformities.

Question 96

``` Patients with which of the following syndromes typically demonstrate hypernasality with speech? A ) Crouzon B ) Hemifacial microsomia C ) Pfeiffer D ) Saethre-Chotzen E ) Velocardiofacial ```

Answer 96

E ) Velocardiofacial Patients with velocardiofacial syndrome (VCF) typically demonstrate velopharyngeal insufficiency, which results in a hypernasal quality of speech.

Question 97

Speech of patients with velocardiofacial syndrome

Answer 97

Patients with velocardiofacial syndrome (VCF) typically demonstrate velopharyngeal insufficiency, which results in a hypernasal quality of speech.

Question 98

Velocardiofacial syndrome is a result of:

Answer 98

Velocardiofacial syndrome is a result of a 22q11.2 deletion and has a wide spectrum of anomalies.

Question 99

Palate abnormality in velocardiofacial syndrome

Answer 99

The palate abnormality in VCF can vary from palatal weakness to a submucous or complete cleft of the palate.

Question 100

Cardiac abnormalities in velocardiofacial syndrome

Answer 100

The cardiovascular anomalies include ventricular septal defect, tetralogy of Fallot, and right-sided aortic arch.

Question 101

Facial appearance in velocardiofacial syndrome

Answer 101

The characteristic facies are malar flattening, narrow palpebral fissures, mall ears, vertical maxillary excess, and relative mandibular retrusion.

Question 102

``` A 3-year-old boy with hemifacial microsomia has the anomaly shown in the photograph (epibulbar dermoids). Which of the following is the most likely diagnosis? A ) Goldenhar syndrome B ) Stickler syndrome C ) Treacher Collins syndrome D ) Van der Woude syndrome E ) Velocardiofacial syndrome ```

Answer 102

A ) Goldenhar syndrome Goldenhar syndrome (oculoauriculovertebral spectrum) is a subset of hemifacial microsomia and, in addition to microsomia of the face, includes vertebral anomalies and/or epibulbar dermoids (as shown in the photograph).

Question 103

In addition to being a subset of hemifacial microsomia, patients with Goldenhar syndrome also demonstrate:

Answer 103

Vertebral anomalies and/or epibulbar dermoids

Question 104

``` Which of the following cranial sutures is the first to undergo physiologic closure? A ) Coronal B ) Lambdoid C ) Metopic D ) Sagittal E ) Squamosa ```

Answer 104

C ) Metopic Physiologic or normal closure of the metopic suture occurs prior to any of the other sutures listed. Recent studies report a potentially even earlier closure of the metopic, at six months, than previously thought. Priorto this most recent study, the metopic was thought to close normally around 2 years of age. All of the other sutures begin closure much later with the closure progression being sagittal (22 years), coronal (24 years), lambdoid (26 years), and the squamosal (35 years).

Question 105

Progression of closure of sutures

Answer 105

``` Metopic by ~6 months Sagittal (22 years) Coronal (24 years) Lambdoid (26 years) Squamosal (35 years) ```

Question 106

``` A 3-year-old girl with mid face hypoplasia, proptosis, and malocclusion is brought to the office for consultation. Which of the following is the most likely occlusal relationship in this patient? A ) Angle class I B ) Angle class II, division 1 C ) Angle class II, division 2 D ) Angle class III ```

Answer 106

D ) Angle class III The patient described with Crouzon disease and a hypoplastic mid face has an Angle class III malocclusion.

Question 107

Angle class 1 occlusion

Answer 107

Angle class I is characterized by the alignment of the mesiobuccal cusp of the maxillary first molar with the mesiobuccal groove of the mandibular first molar.

Question 108

Angle class II malocclusion

Answer 108

Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar.

Question 109

Angle class II malocclusion, division 1

Answer 109

Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar. Angle class II division 1 is associated with flaring of the maxillary incisors and increased overjet.

Question 110

Angle class II malocclusion, division 2

Answer 110

Angle class II is characterized by the alignment of the buccal groove of the lower first molar distal to the mesiobuccal cusp of the upper first molar. Angle class II division 2 is associated with lingually displaced maxillary teeth and excessive labial inclination of the maxillary central incisors.

Question 111

``` Syndromic cleft palate is most commonly found in patients with which of the following syndromes? A ) Apert B ) Saethre-Chotzen C ) Stickler D ) Van der Woude ```

Answer 111

C ) Stickler Stickler syndrome accounts for 25% of syndromic cleft palate cases. As the most common form of syndromic cleft palate, this syndrome is also associated with ocular and auditory defects. Of the others, only Van der Woude syndrome is associated with cleft palate and accounts for 1% of syndromic cleft defects.

Question 112

Stickler syndrome accounts for _______% of syndromic cleft palate cases.

Answer 112

Stickler syndrome accounts for 25% of syndromic cleft palate cases. As the most common form of syndromic cleft palate, this syndrome is also associated with ocular and auditory defects.

Question 113

Most common syndromic cleft palate

Answer 113

Stickler syndrome

Question 114

What type of synostosis occurs with Apert syndrome?

Answer 114

Ani-or bicoronal craniosynostosis

Question 115

Saethre-Chotzen syndrome

Answer 115

Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly characterized by coronal craniosynostosis, low hairline, proptosis, antimongoloid slanting of palpebral fissures, and nasal deviation.

Question 116

Van der Woude syndrome accounts for _______% of syndromic cleft palate cases.

Answer 116

Van der Woude syndrome, associated with lowerlip pitting and cleft palate, accounts for 1% of syndromic cleft defects.

Question 117

``` An 8-year-old boy is brought to the office because of new-onset facial asymmetry that has slowly progressed over the past six months. The patient is otherwise healthy and hasno other abnormalities. A current photograph is shown. Which of the following is the most likely diagnosis? A ) Binder syndrome B ) Craniofacial fibrous dysplasia C ) Oculoauriculovertebral spectrum D ) Romberg disease E ) Treacher Collins syndrome ```

Answer 117

D ) Romberg disease

Question 118

Binder syndrome

Answer 118

Patients with Binder syndrome, or nasomaxillary or premaxillary hypoplasia, have low-set and flat nasal tip, a short, retracted columella, Class III occlusion, and a columella and upper lip that is ―drawn into‖ the floor of the nostrils.

Question 119

McCune-Albright syndrome.

Answer 119

Fibrous dysplasia is a bony dysplasia, presenting as localized bony deformity (ground glassappearance on CT scan). Fibrous dysplasia may be limited to a localized area (monostotic) or may be generalized, affecting many sites (polyostotic), and is called McCune-Albright syndrome.

Question 120

``` A 3-year-old boy is brought to the office by his parents for consultation for macrostomia caused by a lateral facial cleft. This patient is most likely to have a bony defect that traverses which of the following locations? A ) Mandibular bicuspid B ) Mandibular lateral incisor C ) Maxillary canine D ) Maxillary lateral incisor E ) Maxillary second molar ```

Answer 120

E ) Maxillary second molar The patient described has a Tessier No. 7 facial cleft, which involves the soft tissue of the oral commissure, sideburns, and external ear (shown below). The bony involvement generally traverses the zygomatic arch and maxillary second molar.

Question 121

Tessier No. 7 facial cleft is most likely to have a bony defect that traverses which location?

Answer 121

The bony involvement generally traverses the zygomatic arch and maxillary second molar.

Question 122

``` Which of the following facial anomalies is most common in patients with craniofacial microsomia? (A)Facial nerve palsy (B)Mandibular hypoplasia (C)Maxillary hypoplasia (D)Microtia (E)Parotid gland hypoplasia ```

Answer 122

(B)Mandibular hypoplasia Craniofacial microsomia represents the second most common congenital anomaly affecting the head and neck behind cleft of the lip and/or palate. Multiple craniofacial and other anomalies are commonly seen as part of the constellation of findings. The most common anomalies are those affecting the mandible (89% to 100%) and ear (66% to 99%). Less common associations that must be sought involve the vertebrae and ribs (16% to 60%), ipsilateral facial nerve (10% to 45%), and genitourinary structures (4% to 15%), among others

Question 123

Most common anomalies in craniofacial microsomia

Answer 123

``` Mandible (89% to 100%) Ear (66% to 99%) Vertebrae and ribs (16% to 60%) Ipsilateral facial nerve (10% to 45%) Genitourinary structures (4% to 15%) ```

Question 124

``` In the United States, occurrence of encephaloceles is most common in which of the following anatomic regions? (A)Frontoethmoidal (B)Occipital (C)Parietal (D)Sphenoidal ```

Answer 124

(B)Occipital

Question 125

In the United States, occurrence of encephaloceles is most common in which of the following anatomic regions?

Answer 125

In the United States, encephaloceles are most common in the occipital location.

Question 126

In Asia, occurrence of encephaloceles is most common in which of the following anatomic regions?

Answer 126

In Asia, they are more common in the frontoethmoidal region.

Question 127

Prognosis with encephaloceles is most dependent upon what?

Answer 127

The prognosis with these malformations depends upon the presence or absence of herniated brain tissue in the encephalocele

Question 128

``` A 4-month-old boy is brought to the emergency department by his parents for evaluation after he had a seizure for the first time. Physical examination shows low nasal bridge and short neck. On laboratory studies, serum calcium level is 6.0 mg/dL (normal = 9.0–10.5 mg/dL) and serum phosphate level is 7.0 mg/dL (normal = 2.5–4.5 mg/dL). Which of the following is the most likely diagnosis? (A)Albright syndrome (B)Binder syndrome (C)Carpenter syndrome (D)Down syndrome (E)Ectodermal dysplasia ```

Answer 128

(A)Albright syndrome Albright syndrome is the only syndrome listed that affects calcium and phosphate metabolism. It is caused by an autosomal-dominant mutation affecting receptor binding to adenylate cyclase. The resultant craniofacial malformations include a low nasal bridge and ashort neck.

Question 129

Heredity of Albright syndrome

Answer 129

Autosomal-dominant

Question 130

Cause of Albright syndrome

Answer 130

It is caused by an autosomal-dominant mutation affecting receptor binding to adenylate cyclase.

Question 131

Presentation of Albright syndrome

Answer 131

Albright syndrome affects calcium and phosphate metabolism. It is caused by an autosomal-dominant mutation affecting receptor binding to adenylate cyclase. The resultant craniofacial malformations include a low nasal bridge and a short neck.

Question 132

Carpenter syndrome

Answer 132

Carpenter syndrome is a rare autosomal-recessive condition that results in brachycephaly due to variable synostoses, in addition to defects of the cardiovascular, musculoskeletal, and genital systems.

Question 133

Ectodermal dysplasia

Answer 133

Ectodermal dysplasia is an X-linked recessive syndrome that results in hypoplastic skin and sparse dermal appendages.

Question 134

Heredity of ectodermal dysplasia

Answer 134

X-linked recessive

Question 135

An 8-month-old girl is brought to the office for evaluation of the skull asymmetry shown. Physical examination shows posterior plagiocephaly with flattening of the right occipital area and an ipsilateral mastoid bulge. CT scan is shown w/ unilateral lambdoid suture obliteration. Which of the following is the most appropriate management for correction of this deformity? (A)No treatment (B)Modification of sleep position (C)Molding helmet therapy (D)Remodeling of the posterior vault (E)Bilateral fronto-orbital advancement and remodeling

Answer 135

(D)Remodeling of the posterior vault

Question 136

Deformation resulting from lambdoid synostosis

Answer 136

Premature obliteration of the right lambdoid suture (lambdoid synostosis) results in posterior plagiocephaly.

Question 137

Treatment for lambdoid synostosis

Answer 137

Lambdoid synostosis is treated with posterior vault expansion and remodeling.

Question 138

``` A 7-year-old girl is brought to the office for consultation regarding the congenital malformation shown. Which of the following anatomic structures is absent in this patient? (Binder syndrome) (A)Anterior nasal spine (B)Dentoalveolus (C)Hard palate (D)Maxilla (E)Nasal bones ```

Answer 138

(A)Anterior nasal spine

Question 139

What is anatomically absent in Binder syndrome?

Answer 139

Anterior nasal spine

Question 140

Embryological origin of Treacher Collins deformities

Answer 140

Treacher Collins syndrome is characterized by bilaterally symmetrical abnormalities of structures within the first and second branchial arches.

Question 141

A 6-month-old boy is referred by a pediatrician for evaluation of asymmetric shape of the skull. Physical examination shows flattening of the right posterior skull, prominence of the right side of the forehead and zygomatic complex, and forward advancement of the right ear. Which of the following is NOT an option in the management of this patient’s condition? (A)Observation (B)Frequent repositioning exercises (C)Helmet-molding therapy (D)Three-dimensional CT scan of the head (E)Surgical remodeling of the cranial vault

Answer 141

(E)Surgical remodeling of the cranial vault Treatment of positional plagiocephaly initially involves behavioral changes and frequent repositioning of the infant. Prone playtime activities are encouraged. Sometimes physical therapy is required. Custom helmet molding therapy is recommended for severe skull asymmetry or for patients with other developmental issues that would complicate behavioral modifications or repositioning techniques. In this child, poor muscle tone and slight developmental delay lead us to recommend helmet therapy. It is not unusual for the posterior fontanelle to be closed at this time.

Question 142

``` If the 13-year-old boy whose CT scan (The CT scan demonstrates a patient with the type IIb mandibular deformity of hemifacial or craniofacial microsomia) is shown has an epibulbar dermoid, the most appropriate classification of his condition is which of the following syndromes? (A)Goldenhar (B)Stickler (C)Treacher Collins (D)Van der Woude (E)Velocardiofacial ```

Answer 142

(A)Goldenhar

Question 143

``` In the Tessier system, which of the following classifications represents the most common facial cleft? (A)Tessier No. 0 (B)Tessier No. 3 (C)Tessier No. 7 (D)Tessier No. 9 (D)Tessier No. 14 ```

Answer 143

(C)Tessier No. 7

Question 144

Tessier No. 0

Answer 144

A Tessier No. 0 cleft involves the midline of the upper lip and nose.

Question 145

Tessire No. 14

Answer 145

A Tessier No. 0 cleft involves the midline of the upper lip and nose. The Tessier No. 14 cleft is the cranial extension of this.

Question 146

Tessier No. 3

Answer 146

A Tessier No. 3 cleft involves the lateral nasal ala and the medial canthus of the eye

Question 147

Least common Tessier cleft

Answer 147

A Tessier No. 9 cleft is actually the least common cleft. It extends from the superolateral orbit into the temporal region.

Question 148

Tessier No. 9

Answer 148

A Tessier No. 9 cleft is actually the least common cleft. It extends from the superolateral orbit into the temporal region.

Question 149

An 8-year-old girl has bilateral coloboma and retraction of the lower eyelids, ptosis of the upper eyelids, inferior displacement of the lateral canthi, hypoplasia of the temporalis muscles, microtia, and abnormal hairline. Which of the following additional findings in this patient represents the main underlying characteristic of the full expression of Treacher Collins syndrome? (A) Absence of the malar bone and zygomatic arch (B) Bilateral Tessier cleft number 4 (C) Deformed mandibular condyle (D) Premature fusion of the coronal sutures (E) Tessier cleft numbers 0 and 14

Answer 149

(A) Absence of the malar bone and zygomatic arch

Question 150

According to Tessier, the main characteristic of the complete form of Treacher Collins syndrome is:

Answer 150

According to Tessier, the main characteristic of the complete form of Treacher Collins syndrome is the absence of the malar bone and zygomatic arch.

Question 151

``` A 3-month-old infant has bifacial microsomia and mandibular hypoplasia (shown). Which of the following is the best rationale for performing tongue-lip adhesion in this patient? (A) Improve maxillary dentition (B) Optimize airway patency (C) Promote mandibular growth (D) Promote maxillary growth (E) Protect mandibular dentition ```

Answer 151

(B) Optimize airway patency

Question 152

Consequences of not treating airway patency in patients w/ Pierre Robin sequence

Answer 152

Patients may present with airway obstruction, feeding difficulties, or both immediately after birth or during the following weeks of life. If left untreated, many of these infants experience failure to thrive, chronic hypoxemia, and cor pulmonale.

Question 153

``` A 1-month-old infant has right-sided microtia and hemifacial microsomia (No function of the lower lip depressor muscle). Weakness of which of the following branches of the facial nerve is demonstrated? (A) Buccal (B) Cervical (C) Mandibular (D) Temporal (E) Zygomatic ```

Answer 153

(C) Mandibular The photograph of this patient demonstrates animation with symmetrical function of all branches of the facial nerve with the exception of the marginal mandibular branch on the right. The marginal mandibular branch is responsible for innervation of the lower lip depressor muscle, which is nonfunctional in this patient.

Question 154

The ______________ gives rise to the facial (VII) nerve

Answer 154

The second branchial cleft arch gives rise to the facial (VII) nerve.

Question 155

Where does the facial (VII) nerve exit the skull?

Answer 155

This nerve exits the skull at the stylomastoid foramen.

Question 156

What kind of fibers doe the facial (VII) nerve contain?

Answer 156

Motor and sensory fibers.

Question 157

Anatomical course of the facial nerve after it separates the skull

Answer 157

The facial (VII) nerve exits the skull at the stylomastoid foramen. The auricular branch separates before the facial nerve turns to the parotid gland. At the parotid gland, the facial nerve separates into two main divisions, the temporofacial and cervicofacial divisions, which further divide into the temporal, zygomatic, buccal, mandibular, and cervical branches.

Question 158

Two main divisions of the facial (VII) nerve

Answer 158

At the parotid gland, the facial nerve separates into two main divisions, the temporofacial and cervicofacial divisions.

Question 159

Hemifacial microsomia

Answer 159

Second most common congenital facial anomaly and is unilateral in 80% of affected patients. Usually, patients have some form of microtia and hypoplasia of the mandibular ramus. They may also have macrostomia, facial paralysis, and hypoplasia of the muscles of mastication.

Question 160

Hemifacial microsomia produces anomalies in structures derived from:

Answer 160

Hemifacial microsomia produces anomalies in skeletal, soft tissue, and neuromuscular structures derived from the first and second branchial arches.

Question 161

``` The papilla of the parotid duct is most commonly located adjacent to which of the following maxillary teeth? (A) First bicuspid (B) Second bicuspid (C) First molar (D) Second molar (E) Third molar ```

Answer 161

(D) Second molar

Question 162

The papilla of the parotid is located most frequently adjacent to:

Answer 162

The papilla of the parotid is located most frequently adjacent to the maxillary second molar as it empties the secretions of the parotid gland via Stensen’s duct

Question 163

``` The 2-year-old boy shown is scheduled to undergo cleft repair. Which of the following is the most appropriate Tessier classification of this cleft? (A) Tessier No. 0 (B) Tessier No. 3 (C) Tessier Nos. 6, 7, and 8 (D) Tessier No. 7 (E) Tessier No. 14 ```

Answer 163

(D) Tessier No. 7

Question 164

Two types of Tessier Clefts

Answer 164

Lower numbers (0 through 7) represent facial clefts and the higher numbers (8 through 14) represent their cranial extension.

Question 165

``` A 12-week-old girl has a cleft of the soft palate, symptoms of respiratory obstruction when lying supine, and history of poor weight gain. Which of the following is the most likely diagnosis? (A) Hemifacial microsomia (B) Isolated cleft palate (C) Pierre Robin sequence (D) Van der Woude syndrome (E) Velocardiofacial syndrome ```

Answer 165

(C) Pierre Robin sequence The child described has Pierre Robin sequence, which is associated with the symptoms of micrognathia, glossoptosis, and respiratory distress. Children with this condition often have difficulty with feedings as well.

Question 166

Pierre Robin sequence is believed to result from..

Answer 166

Pierre Robin sequence is believed to result from the tongue coming between the palatal shelves in the developing fetus.

Question 167

Syndrome associated with absence of the thymus and parathyroid glands

Answer 167

Velocardiofacial syndrome

Question 168

``` A 6-year-old boy is brought to the office by his parents for consultation regarding bilateral congenital facial palsy and syndactyly of the hands. He underwent surgical correction of strabismus five years ago. Which of the following conditions is the most likely cause of this patient's symptoms? (A) Apert syndrome (B) Bell palsy (C) Goldenhar syndrome (D) Hemifacial microsomia (E) Möbius syndrome ```

Answer 168

(E) Möbius syndrome Möbius syndrome is a developmental disorder characterized by bilateral facial palsy and abducens nerve paralysis. Strabismus surgery is performed to correct paralysis of lateral gaze. Limb abnormalities, including clubfeet, syndactyly, and rudimentary fingers or toes, have been reported in 25% of cases. Additional cranial nerves (III, V, IX, XI, and XII) may be involved in Möbius syndrome, and some patients may present with congenital unilateral or partial facial paralysis.

Question 169

Limb abnormalities and Mobius syndrome

Answer 169

Limb abnormalities, including clubfeet, syndactyly, and rudimentary fingers or toes, have been reported in 25% of cases.

Question 170

``` The harlequin deformity occurs most commonly in patients with which of the following craniosynostoses? (A) Coronal (B) Crouzon syndrome (C) Lambdoidal (D) Metopic (E) Sagittal ```

Answer 170

(A) Coronal The harlequin deformity is a radiographic appearance characterized by an oblique opacity extending from inferior and medial to superior and lateral through the orbital aperture. This is caused by superior displacement of the lesser wing of the sphenoid secondary to synostosis of the coronal suture on the side of the harlequin appearance.

Question 171

Harlequin deformity

Answer 171

The harlequin deformity is a radiographic appearance characterized by an oblique opacity extending from inferior and medial to superior and lateral through the orbital aperture.

Question 172

What synostosis is the harlequin deformity associated with?

Answer 172

Coronal: The harlequin deformity is a radiographic appearance characterized by an oblique opacity extending from inferior and medial to superior and lateral through the orbital aperture. This is caused by superior displacement of the lesser wing of the sphenoid secondary to synostosis of the coronal suture on the side of the harlequin appearance.

Question 173

``` Which of the following craniofacial anomalies is associated with orbital hypotelorism? (A) Crouzon syndrome (B) Frontonasal dysplasia (C) Frontonasal encephalocele (D) Trigonocephaly ```

Answer 173

(D) Trigonocephaly Hypotelorism, a decrease in intraorbital distance, occurs with trigonocephaly caused by metopic synostosis and holoprosencephaly. In patients with metopic synostosis, growthis inhibited perpendicular to the synostotic metopic suture, resulting in decreased interorbital distance as well as narrowing of the forehead.

Question 174

``` In patients with Binder syndrome, the most likely physical finding is hypoplasia of which of the following structures? (A) Anterior cranial base (B) Anterior nasal floor (C) Anterior wall of the maxilla (D) Medial orbital wall (E) Nasal septum ```

Answer 174

(B) Anterior nasal floor A patient with Binder syndrome, or maxillonasal dysplasia, typically has a shortened nose with flattening of the nasal bridge and perialar regions. The columella is shortened, the nasolabial angle is acute, and the upper lip is convex. The anterior nasal spine and frontonasal angle are absent. Occlusion is Angle class III. Binder syndrome is caused by hypoplasia of the anterior nasal floor (fossa praenasalis) and localized symmetric maxillary hypoplasia in the region of the alar rims. N

Question 175

Binder syndrome is caused by:

Answer 175

Binder syndrome is caused by hypoplasia of the anterior nasal floor (fossa praenasalis) and localized symmetric maxillary hypoplasia in the region of the alar rims.

Question 176

Goal of surgery in patient with Binder syndrome

Answer 176

In patients with Binder syndrome, the primary goal of surgery is increasing the length of the nose and the projection of the nasal tip. This can be achieved by performing Le Fort I osteotomy, Le Fort II osteotomy, or a combination of both procedures, as well as compensatory orthodontic treatment. Autogenous bone and cartilage grafts may be required to reconstruct the nose.

Question 177

``` Mutation of the fibroblast growth factor receptor (FGFR) has been most commonly associated with which of the following single-suture synostoses? (A) Lambdoid (B) Metopic (C) Sagittal (D) Squamosal (E) Unicoronal ```

Answer 177

(E) Unicoronal

Question 178

Mutation of _________ has been found to cause unicoronal synostosis

Answer 178

Mutation of FGFR3, located at chromosome 4p16, has been found to cause unicoronal synostosis.

Question 179

FGFR2 and unicoronal synostosis

Answer 179

Evaluation of patients with unicoronal synostosis showed more severe cranial dysmorphology and a higher number of surgical revisions in those with FGFR3 mutation for facial dysmorphology compared with those without the mutation.

Question 180

Which of the following findings is commonly caused by nonsyndromic unicoronal synostosis? (A) Anterior displacement of the ipsilateral ear (B) Deviation of the root of the nose to the contralateral side (C) Flattening of the ipsilateral aspect of the occiput (D) Occlusal cant up on the ipsilateral side (E) Recession of the contralateral forehead

Answer 180

(A) Anterior displacement of the ipsilateral ear Nonsyndromic unicoronal synostosis commonly causes anterior displacement of the ipsilateral ear toward the affected suture. It also typically results in ipsilateral flattening and contralateral bossing of the forehead and deviation of the root of the nose to the ipsilateral side toward the affected suture. Unicoronal synostosis does not typically affect occlusion on either side and is not likely to cause significant change in occipital shape

Question 181

Position of the ear and unicoronal synostosis

Answer 181

Nonsyndromic unicoronal synostosis commonly causes anterior displacement of the ipsilateral ear toward the affected suture.

Question 182

``` A 2-month-old infant has a facial cleft extending from the upper lip through the nasal ala and into the medial canthal region. Which of the following is the most appropriate Tessier classification of this cleft? (A) No. 1 (B) No. 2 (C) No. 3 (D) No. 4 (E) No. 5 ```

Answer 182

(C) No. 3

Question 183

What is the only Tessier classification where the cleft involves the nasal ala and medial canthus?

Answer 183

Tessier number 3 is the only classification in which the cleft involves the nasal ala and medial canthus.

Question 184

What Tessier cleft involves the nasal ala but is medial to the nose?

Answer 184

A cleft classified as number 1 or 2 involves the nasal ala but is medial to the eye.

Question 185

What Tessier cleft is lateral to the nose and typically involves the lower eyelid?

Answer 185

A cleft classified as number 4 or 5 is lateral to the nose and typically involves the lower eyelid.

Question 186

``` In patients with Treacher Collins syndrome, which of the following is a characteristic skeletal finding? (A) Brachycephaly (B) Hypertelorism (C) Macrogenia (D) Malar hypoplasia (E) Preaxial polysyndactyl ```

Answer 186

(D) Malar hypoplasia

Question 187

Occlusion in Treacher Collins syndrom

Answer 187

Occlusion is Angle class II; there is an anterior open bite and clockwise rotation of the occlusal plane.

Question 188

``` A 4-month-old infant has had a mass on the central nasal bridge (shown above) since birth. Physical examination shows a mass measuring 0.5 x 1 cm that is soft and minimally mobile with a central pore. MRI of the head is shown above. Based on these clinical findings, which of the following is the most likely diagnosis? (A) Dermoid cyst (B) Encephalocele (C) Glioma (D) Lipoma (E) Vascular malformation ```

Answer 188

(A) Dermoid cyst

Question 189

In pediatric patients, where are orbitofacial dermoid cysts found?

Answer 189

In pediatric patients, orbitofacial dermoid cysts vary in presentation and location. They typically fall into three subgroups: brow region, orbital region, and nasoglabellar region. Most dermoid cysts are located in the lateral brow region.

Question 190

Dermoid cysts and intracranial extension

Answer 190

Typically, dermoid cysts in the brow and orbital regions do not have intracranial extension and can be excised locally. However, 10% to 45% of nasoglabellar dermoid cysts have sinus tracts and occasional intracranial extension. For dermoid cysts in this region, further studies with MRI or CT are recommended to exclude intracranial extension.

Question 191

``` According to Tessier’s classification, patients with which of the following types of clefts have displacement of the medial canthus of the eyelid? (A) No. 1 (B) No. 3 (C) No. 5 (D) No. 7 (E) No. 9 ```

Answer 191

(B) No. 3

Question 192

What bones does Tessier No. 3 cleft involve?

Answer 192

This cleft begins in the alveolus, between the lateral incisor and canine, and extends through the maxilla and into the lacrimal bone. According to the Tessier system, displacement of the medial canthus of the eyelid is characteristic of the No. 3 cleft.

Question 193

Tessier No. 1

Answer 193

The Tessier No. 1 cleft lies just lateral to the midline, beginning at the cupid’s bow and passing through the dome ofthe nostril lateral to the anterior nasal spine. Notching of the alar dome is a distinctive feature. The nasal bone may be absent, but the septum is unaffected. Hypertelorism and encephalocele may also be associated.

Question 194

Tessier No. 2

Answer 194

The No. 2 cleft is exceedingly rare and may be a transition between the No. 1 and No. 3 clefts

Question 195

Tessier No. 4

Answer 195

The Tessier No. 4 cleft passes between the piriform aperture and the infraorbital foramen. It begins lateral to cupid’s bow and the philtrum and then passes lateral to the nasal ala and onto the cheek, terminating in the lower eyelid medial to the punctum. The medial canthal tendon is unaffected.

Question 196

Tessier No. 5

Answer 196

The rare Tessier No. 5 cleft begins behind the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated.

Question 197

Tessier No. 6

Answer 197

The No. 6 cleft is the incomplete form of Treacher Collins syndrome. This cleft passes inferior and lateral to the oral commissure, toward the angle of the mandible. Colobomas of the lateral lower eyelids occur.

Question 198

Tessier No. 8

Answer 198

The No. 8 cleft extendsfrom the lateral commissure of the palpebral fissure to the temporal region and is also associated with colobomas of the lower eyelids.

Question 199

Tessier No. 9

Answer 199

The Tessier No. 9 cleft is merely a supraorbital extension of the No. 5 cleft.

Question 200

A 10-month-old boy with uncorrected left coronal synostosis is brought for evaluation by his parents who have noticed that the boy’s head is tilted to the right. On physical examination, the head can be straightened to a neutral position easily; there is no palpable mass or firmness within the sternocleidomastoid muscle. Which of the following is the most likely cause? (A) Muscular torticollis (B) Paresis of the contralateral superior oblique muscle (C) Paresis of the ipsilateral superior oblique muscle (D) Paresis of the contralateral superior rectus muscle (E) Paresis of the ipsilateral superior rectus muscle

Answer 200

(C) Paresis of the ipsilateral superior oblique muscle The most likely cause of the findings in this patient is paresis of the ipsilateral superioroblique muscle. Unilateral coronal synostosis is characterized by foreshortening of the orbital roof on the affected side. As a result, some patients have strabismus occurring secondary to relative paresis of the superior oblique muscle. The child may tilt the head and thus elevate the eye to compensate for this problem; covering the affected eye is likely to resolve the head tilt.

Question 201

Unilateral coronal synostosis and the orbital roof

Answer 201

Unilateral coronal synostosis is characterized by foreshortening of the orbital roof on the affected side. As a result, some patients have strabismus occurring secondary to relative paresis of the superior oblique muscle.

Question 202

Muscular torticollis

Answer 202

Muscular torticollis is thought to be caused by abnormalities in the sternocleidomastoid muscle. When palpated, the muscle is firm or has a mass. Resistance to passive correction of the abnormal head position is associated

Question 203

``` In mandibular distraction osteogenesis, the central region of the distraction gap is described as which of the following zones? (A) Chondrocytic zone (B) Fibrous zone (C) Remodeling bone zone (D) Transition zone of extending bone (E) Zone of mature bone formation ```

Answer 203

(B) Fibrous zone In mandibular distraction osteogenesis, the central region of the distraction gap is referred to as the fibrous zone because it is characterized by fibrous tissue. The transitional zone, which lies adjacent to the fibrous zone, contains fibrous tissue undergoing ossification. This zone is surrounded by the zone of remodeling bone, which is itself surrounded by the zone of mature bone. Chondrocytes are only present in mandibular distraction osteogenesis when there is excessive motion.

Question 204

Crouzon syndrome

Answer 204

Crouzon syndrome is a syndrome of bilateral coronal synostosis or acrocephalosyndactyly. Affected patients have retrusion of the forehead and superior orbital rim, proptosis caused by shallow orbits, and midface hypoplasia. Occlusion is Angle class III.

Question 205

Acrocephalosyndactyly

Answer 205

Craniosynostosis + syndactyly

Question 206

Mandibular distraction: fibrous zone

Answer 206

In mandibular distraction osteogenesis, the central region of the distraction gap is referred to as the fibrous zone because it is characterized by fibrous tissue.

Question 207

Mandibular distraction: transitional zone

Answer 207

In mandibular distraction osteogenesis, the transitional zone, which lies adjacent to the fibrous zone, contains fibrous tissue undergoing ossification.

Question 208

Mandibular distraction: zone of remodeling bone

Answer 208

The transitional zone is is surrounded by the zone of remodeling bone, which is itself surrounded by the zone of mature bone.

Question 209

A 15-year-old girl with Apert syndrome has the deformity shown in the photograph and radiograph above (Although the forehead and superior orbital bar are positioned appropriately, there is deficiency and retrusion of the midface and malocclusion). She underwent bifrontal craniotomy with bilateral supraorbital bar advancement at age 9 months. On examination, 25 mm of midface advancement is needed. Which of the following operative procedures is most appropriate? (A) Monobloc advancement (B) Le Fort I osteotomy withimmediate advancement with bone grafting (C) Le Fort I osteotomy with advancement by distraction osteogenesis (D) Le Fort III osteotomy with immediate advancement with bone grafting (E) Le Fort III osteotomy with advancement by distraction osteogenesis

Answer 209

(E) Le Fort III osteotomy with advancement by distraction osteogenesis Although the forehead and superior orbital bar are positioned appropriately, there is deficiency and retrusion of the midface and malocclusion. Le Fort III osteotomy will correct the midface deficiency and the skeletal portion of the malocclusion. Distraction osteogenesis is preferred over bone grafting for advancement of more than 10 mm because it produces a more stable result that is less prone to relapse and allows for more gradual stretching of the soft-tissue envelope. Distraction osteogenesis is also associated with a lower rate of morbidity and less need for secondary midface procedures when compared with bone grafting.

Question 210

Distraction osteogenesis vs bone grafting for facial advancement

Answer 210

Distraction osteogenesis is preferred over bone grafting for advancement of more than 10 mm because it produces a more stable result that is less prone to relapse and allows for more gradual stretching of the soft-tissue envelope. Distraction osteogenesis is also associated with a lower rate of morbidity and less need for secondary midface procedures when compared with bone grafting.

Question 211

In infants with hemifacial microsomia, which of the following deformities should be corrected initially? (A) Abnormalities of the temporomandibular joint abnormalities (B) Auricular deformities (C) Deficiency of the mandibular ramus (D) Deficiency of the mandibular body (E) Macrostomia

Answer 211

(E) Macrostomia Hemifacial microsomia is a condition associated with embryologic abnormalities involving the first and second branchial arches, including a Tessier No. 7 cleft. It is characterized by incomplete development of the external and middle ear, mandible, zygoma, maxilla, temporal bone, parotid gland, tongue, and the muscles of the palate and those that control mastication and facial expression. Affected patients have multiple clinical manifestations such as macrostomia, first branchial cleft sinus, and abnormalities of the cranial nerves.

Question 212

Hemifacial microsomia embryologic abnormalities

Answer 212

Hemifacial microsomia is a condition associated with embryologic abnormalities involving the first and second branchial arches, including a Tessier No. 7 cleft.

Question 213

Clinical presentation of patients with hemifacial microsomia

Answer 213

It is characterized by incomplete development of the external and middle ear, mandible, zygoma, maxilla, temporal bone, parotid gland, tongue, and the muscles of the palate and those that control mastication and facial expression. Affected patients have multiple clinical manifestations such as macrostomia, first branchial cleft sinus, and abnormalities of the cranial nerves.

Question 214

Chronologic surgical plan for patients with hemifacial microsomia

Answer 214

The first few months after birth: macrostomia repair Ages 5-6: Skeletal and soft-tissue repair. The mandibular deformities are typically corrected first, followed by the maxillary defects. Correction of soft-tissue deformities is generally delayed until skeletal reconstruction has been completed.

Question 215

``` Premature fusion of which of the following sutures is most often associated with abnormalities in the corpus callosum? (A) Coronal (B) Lambdoid (C) Metopic (D) Squamosa l(E) Sagittal ```

Answer 215

(C) Metopic Premature fusion of the metopic suture, or trigonocephaly, is most often associated with abnormalities of the corpus callosum or other neurologic structures in the midline of the skull. Agenesis of the corpus callosum is a common abnormality. Children with trigonocephaly also have a higher than expected incidence of developmental delay.

Question 216

Synostosis associated with abnormality of the corpus callosum

Answer 216

Metopic

Question 217

The corpus callosum

Answer 217

The corpus callosum connects the left and right cerebral hemispheres and facilitates interhemispheric communication.

Question 218

``` Mutations in the genetic loci for the fibroblast growth factor receptors (FGFR) have been shown to occur with greater frequency in patients with synostosis of which of the following sutures? (A) Coronal (B) Lambdoid (C) Metopic (D) Sagittal (E) Squamosal ```

Answer 218

(A) Coronal

Question 219

``` Which of the following craniofacial anomalies does NOT demonstrate genetic transmission? (A) Acrocephalosyndactyly (B) Apert syndrome (C) Craniofacial microsomia (D) Mandibulofacial dysostosis (E) Nager syndrome ```

Answer 219

(C) Craniofacial microsomia it is believed that craniofacial microsomia is caused by an intrauterine event, such as occlusion of the stapedial artery or development of hematoma. Craniofacial microsomia is far more likely to be unilateral (hemifacial) than bilateral. It manifests as facial paralysis and malformations of the mandibular ramus. Growth of the mandibular condyle is impaired, resulting in inadequate development of the mandible and the craniofacial osseous complex on the affected side.

Question 220

What is craniofacial microsomia believed to be caused by? Heredity?

Answer 220

it is believed that craniofacial microsomia is caused by an intrauterine event, such as occlusion of the stapedial artery or development of hematoma. Craniofacial microsomia is far more likely to be unilateral (hemifacial) than bilateral.

Question 221

How are Crouton and Apert syndromes differentiated?

Answer 221

These syndromes are characterized by craniosynostosis, exorbitism, and midface retrusion; however, each is differentiated by its associated extremity findings. Patients with Apert syndrome have severe syndactyly of the middle three digits of the hands and feet, often with a common nail. In Crouzon syndrome, the extremities are normal

Question 222

Mandibulofacial dysostosis is also known as:

Answer 222

Mandibulofacial dysostosis is also known as Treacher Collins syndrome

Question 223

Nager syndrome

Answer 223

Nager syndrome is an autosomal recessive disorder that has facial characteristics similar to Treacher Collins syndrome. Affected patients also have hypoplasia of the thumbs, metacarpals, and radius, and may have mental retardation.

Question 224

Nager syndrome heredity

Answer 224

Autosomal recessive

Question 225

A 7-year-old boy has hypernasality and velopharyngeal incompetence. He underwent repair of a ventricular septal defect at birth and repair of a cleft palate at age 9 months. His mother says that he has had difficulties with language learning. Physical examination shows upward slanting of the palpebral fissures, a broad nasal root, a small mouth, and a thin upper lip.Which of the following studies is most likely to lead to a diagnosis in this patient? (A) Measurement of serum creatine kinase level (B) Chromosomal karyotyping (C) Fluorescent in situ hybridization (FISH) analysis (D) MR angiography

Answer 225

(C) Fluorescent in situ hybridization (FISH) analysis This 7-year-old boy has findings consistent with velocardiofacial syndrome, or Shprintzen syndrome, an autosomal dominant disorder with variable expressivity. Because velocardiofacial syndrome is associated with a deletion on the long arm of chromosome 22q11.2, fluorescent in situ hybridization (FISH) analysis can be used to test any child with suspected velocardiofacial syndrome for chromosomal deletions. Although routine chromosomal karyotyping will not detect the small deletion associated with velocardiofacial syndrome, fluorescent-tagged DNA probes can be used in conjunction with routine cytogenetic examination. On examination with a fluorescent microscope, a child with a normal chromosomal pattern will have two signals (one on each chromosome), whereas only one signal will be present in the child with velocardiofacial syndrome.

Question 226

Test to determine velocardiofacial syndrome

Answer 226

Because velocardiofacial syndrome is associated with a deletion on the long arm of chromosome 22q11.2, fluorescent in situ hybridization (FISH) analysis can be used to test any child with suspected velocardiofacial syndrome for chromosomal deletions. Although routine chromosomal karyotyping will not detect the small deletion associated with velocardiofacial syndrome, fluorescent-tagged DNA probes can be used in conjunction with routine cytogenetic examination. On examination with a fluorescent microscope, a child with a normal chromosomal pattern will have two signals (one on each chromosome), whereas only one signal will be present in the child with velocardiofacial syndrome.

Question 227

A 3-month-old infant is being evaluated because his parents are concerned that his head is abnormally shaped. Examination shows scaphocephaly and occipital bossing. Which of the following is the most appropriate management for correction of the deformity? (A) Modification of sleep positioning (B) Molding helmet therapy (C) Monobloc advancement (D) Cranial vault remodeling with barrel staving (E) Bilateral frontal craniotomy and bilateral fronto-orbital advancemet

Answer 227

(D) Cranial vault remodeling with barrel staving Cranial vault remodeling with a barrel stave technique will help increase the width of the skull. Although sagittal strip craniectomy has been shown to produce improvement in infants with mild forms of sagittal synostosis, it cannot be used alone to widen the skull or correct frontal bossing.

Question 228

Sagittal synostosis, comparison of operative management

Answer 228

Cranial vault remodeling with a barrel stave technique will help increase the width of the skull. Although sagittal strip craniectomy has been shown to produce improvement in infants with mild forms of sagittal synostosis, it cannot be used alone to widen the skull or correct frontal bossing.

Question 229

Monobloc advancement

Answer 229

Monobloc advancement creates osteotomy lines similar to those produced by a Le Fort III procedure but does not osteotomize the nasofrontal junction and frontozygomatic suture. This technique allows for correction of supraorbital and midface deformities simultaneously but is associated with high rates of infection and cerebrospinal fluid leakage. These complications are thought to occur as a result of direct communication between the cranial and nasal cavities.

Question 230

For what kind of deformity can sagittal strip craniectomy not be used?

Answer 230

Although sagittal strip craniectomy has been shown to produce improvement in infants with mild forms of sagittal synostosis, it cannot be used alone to widen the skull or correct frontal bossing.

Question 231

``` The photograph shown above is of a neonate who has a large, horseshoe-shaped cleft involving the hard and soft palates. He has difficulty breathing when placed in the supine position; his chest wall retracts and he grunts. Which of the following is the most likely diagnosis? (A) Binder syndrome (B) Klippel-Feil anomaly (C) Pierre Robin sequence (D) van der Woude syndrome (E) Velocardiofacial syndrome ```

Answer 231

(C) Pierre Robin sequence This neonate has the triad of symptoms associated with Pierre Robin sequence: micrognathia, glossoptosis, and respiratory distress. Although cleft palate is often associated, it does not have to be present in order to make this diagnosis. Pierre Robin sequence is thought to result from forces that prevent the movement of the fetal tongue from between the vertically oriented palatal shelves, resulting in incomplete closure of the palatal shelves and ultimately cleft palate

Question 232

Klippel-Feil anomaly

Answer 232

Klippel-Feil anomaly manifests as a short neck, alow posterior hairline, deformities of the cervical spine, facial abnormalities, and hearing loss: significant fusion of the cervical spine with varying involvement of the thoracic and lumbar spinal regions. Affected patients have limited cervical motion and a low posterior hairline. Cleft palate is often associated.

Question 233

A 4-month-old child has an abnormal head shape. Physical examination shows anterior displacement of the right ear and zygoma and the right side of the forehead; there is abnormal flattening of the right side of the occipital skull. The skull shape appears similar to a parallelogram. There is no bulging of the mastoid or ridging of the sutures. These findings are most consistent with which of the following? (A) Bilateral posterior deformational plagiocephaly (B) Left-sided posterior deformational plagiocephaly (C) Left-sided posterior lambdoidal craniosynostosis (D) Right-sided posterior deformational plagiocephaly (E) Right-sided posterior lambdoidal craniosynostosis

Answer 233

(D) Right-sided posterior deformational plagiocephaly

Question 234

Appropriate treatment of lambdoidal craniosynostosis

Answer 234

Appropriate management is craniofacial surgery with cranial vault remodeling at approximately 6 to 9 months of age

Question 235

An infant has brachycephaly, hypertelorism, a bregmatic "bump," and bony syndactyly of the fingers. Diagnosis:

Answer 235

Apert syndrome. The infant has findings consistent with Apert syndrome, which is characterized by brachycephaly, hypertelorism with flattening of the face,strabismus, palsy of the ocular muscles, an antimongoloid slant of the palpebral fissures, and maxillary hypoplasia. Affected patients typically have a prominent bregmatic eminence or "bump." There is bony syndactyly with complete fusion of the four fingers; the thumb is unaffected. Cutaneous syndactyly of the toes may be simple or complex. Although occurrence is typically sporadic, new mutations with autosomal dominant inheritance have been detected

Question 236

Three members of a family have exorbitism, proptosis, retromaxillism, and recession of the frontal bone. There are no extremity abnormalities. Diagnosis:

Answer 236

Crouzon syndrome. The affected family most likely has Crouzon syndrome, characterized by exorbitism, retromaxillism, inframaxillism, and paradoxical retrogenia. Inheritance is autosomal dominant, and occurrence is both sporadic and familial. Affected patients typically have recession of the frontal bone and supraorbital rim, midface retrusion, exorbitism with proptosis, and hypoplasia of the infraorbital rim. Hypertelorism, a bregmatic "bump," and abnormalities of the hands are not characteristic.

Question 237

Carpenter syndrome

Answer 237

Patients with Carpenter syndrome, or acrocephalopolysyndactyly, have craniosynostosis, shortened fingers, soft-tissue syndactyly, preaxial polydactyly, congenital cardiac disease, hypogenitalism, obesity, and umbilical herniation. The inheritance pattern of this syndrome is autosomal recessive.

Question 238

Carpenter syndrome inheritance

Answer 238

Autosomal recessive

Question 239

Nager syndrome

Answer 239

Nager syndrome, or acrofacial dysostosis, is an autosomal recessive condition. Affected patients typically have short stature, cleft palate, and hypoplasia of the orbits, zygoma, maxilla, and mandible. Preaxial reduction defects occur in the upper, and sometimes lower, limbs. Hypoplasia or agenesis of the thumbs, radius, and one or more metacarpals is also characteristic. They may have mental retardation.

Question 240

Pfeiffer syndrome

Answer 240

Pfeiffer syndrome is an autosomal dominant disorder characterized by variable forms of craniosynostosis, acrocephalosyndactyly with broad thumbs and great toes, and severe midfacehypoplasia.

Question 241

Pfeiffer syndrome inheritance

Answer 241

Autosomal dominant

Question 242

``` According to Tessier's classification, which of the following is the mostcommon craniofacial cleft? (A) No. 0 (B) No. 3 (C) No. 4 (D) No. 6 (E) No. 7 ```

Answer 242

(E) No. 7

Question 243

A 25-year-old woman has facial asymmetry. She says that she has had progressive loss of soft-tissue volume on the right side of the face since age 10 years that became stabilized four years ago. Examination shows significant subcutaneous atrophy of the right side of the face without bony asymmetry. She also has hypopigmentation of the iris on the affected side. Which of the following is the most appropriate management? (A) Bone graft augmentation of the mid face (B) Alloplastic augmentation (C) Reconstruction with a microvascular serratus anterior free flap (D) Reconstruction with a microvascular parascapular free flap (E) Reconstruction with a superficial temporal fascia flap

Answer 243

(D) Reconstruction with a microvascular parascapular free flap This 25-year-old woman has Romberg's hemifacial atrophy characterized by progressive unilateral loss of facial soft tissue. The underlying skeleton is also affected in patients with severe forms of the disease. Surgery should be delayed until the condition becomes stabilized, which is indicated by the cessation of facial atrophy. When this has occurred, a microvascular parascapular flap can be deepithelialized and customized to fit the dimensions of the defect, and then transferred and buried subcutaneously

Question 244

When should surgery be performed for Parry Romberg disease?

Answer 244

When the condition is stabilized

Question 245

Which of the following substances has been shown to be associated with the mechanisms of cranial suture fusion in animal models? (A) Epidermal growth factor (EGF) (B) Interleukin-6 (IL-6) (C) Prostaglandin-E2 (PGE2) (D) Transforming growth factor-beta (TGF-B) (E) Tumor necrosis factor-alpha (TNF-B)

Answer 245

(D) Transforming growth factor-beta (TGF-B) Although the mechanisms of action resulting in premature fusion of cranial sutures, or craniosynostosis, are unknown, experimental animal studies have shown that transforming growth factor-beta (TGF-B) plays a role in the fusion of posterior frontal sutures.

Question 246

``` The anterior fontanelle typically closes completely at how many months of age? (A) 3 (B) 9 (C) 12 (D) 24 (E) 36 ```

Answer 246

(D) 24

Question 247

The anterior fontanelle typically closes completely at how many months of age?

Answer 247

24 months

Question 248

Anatomy of the anterior fontanelle

Answer 248

The anterior fontanelle is the largest, measuring approximately 4 cm anteroposteriorly and 2.5 cm transversely. It is located at the junction of the sagittal, coronal, and frontal sutures.

Question 249

Anatomy of the posterior fontanelle

Answer 249

The posterior fontanelle is triangular in shape and is found at the junction of the sagittal and lambdoid sutures.

Question 250

When does the posterior fontanelle typically close?

Answer 250

Age 2 months

Question 251

``` Which of the following is the most common craniofacial anomaly? (A)Bilateral craniofacial microsomia (B) Goldenhar syndrome (C) Hemifacial microsomia (D) Nager syndrome (E) Treacher Collins syndrome ```

Answer 251

(C) Hemifacial microsomia

Question 252

``` A 5-year-old boy has marked malar hypoplasia, a class II anterior open bite, and clockwise rotation of the occlusal plane. There is hypoplasia of the thumbs bilaterally. Which of the following is the most likely diagnosis? (A) Bilateral craniofacial microsomia (B) Goldenhar syndrome (C) Klippel-Feil syndrome (D) Nager syndrome (E) Treacher Collins syndrome ```

Answer 252

(D) Nager syndrome

Question 253

Similar to Treacher Collins, but with prefixal limb anomalies and mental retardation:

Answer 253

Nager syndrome

Question 254

``` Scaphocephaly is associated with which of the following suture synostoses? (A) Bilateral coronal (B) Lambdoid (C) Metopic (D) Sagittal (E) Unilateral coronal ```

Answer 254

(D) Sagittal

Question 255

``` The photograph above is of an 11-year-old girl who is undergoing evaluation because of the appearance of her nose. Examination shows a short, flattened nasal bridge and midface hypoplasia. The anterior nasal spine is absent on radiographs. Which of the following is the most likely diagnosis? (A) Binder's syndrome (B) Goldenhar's syndrome (C) Nager's syndrome (D) Treacher Collins syndrome (E) Velocardiofacialsyndrome ```

Answer 255

(A) Binder's syndrome

Question 256

``` According to the Tessier classification, which of the following clefts is most closely associated with macrostomia? (A) No. 1 (B) No. 3 (C) No. 5 (D) No. 7 (E) No. 9 ```

Answer 256

(D) No. 7

Question 257

A 25-year-old woman comes for evaluation because she desires surgical correction of a gummy smile and a weak chin. On examination, she has clinical signs consistent with long face syndrome. Which of the following is the most appropriate management? (A) Anterior segmental maxillary osteotomy with intrusion of the anterior segment (B) Le Fort I osteotomy with inferior repositioning of the maxilla (C) Le Fort I osteotomy with superior repositioning of the maxilla and genioplasty (D) Sagittal split osteotomy with mandibular advancement and genioplasty (E) Sliding genioplasty

Answer 257

(C) Le Fort I osteotomy with superior repositioning of the maxilla and genioplasty Le Fort I osteotomy with superior repositioning of the maxilla (intrusion) should be performed for management of this patient's vertical maxillary excess. If autorotation alone does not correct the chin positioning, genioplasty can be performed as well. Le Fort I osteotomy with inferior repositioning will only further increase lower facial height. As mentioned above, sagittal split osteotomy with mandibular advancement and genioplasty can be used in conjunction with Le Fort I osteotomy in this patient to correct the Angle class II malocclusion and/or any facial asymmetry, but will not address all of this patient's facial concerns if performed alone. Sliding genioplasty will treat the weak chin only, and not the maxillary excess, nose and lip findings, or malocclusion.

Question 258

Long face syndrome

Answer 258

Long face syndrome is characterized by excessive length of the lower third of the face. Affected patients have lip incompetence with the lips in repose, a large interlabial gap, and excessive maxillary incisor show with the upper lip at rest; normal maxillary incisor show is quantified as 2 mm to 3 mm. In addition, the nasolabial angle is obtuse and the alar bases are narrow and constricted. Occlusion is often Angle class II with an anterior open bite. The chin is often vertically long and somewhat retruded.

Question 259

``` Which of the following craniosynostotic disorders is NOT characterized by anomalies of the extremities? (A) Apert syndrome (B) Carpenter syndrome (C) Crouzon syndrome (D) Nager syndrome (E) Pfeiffer syndrome ```

Answer 259

(C) Crouzon syndrome

Question 260

Limb abnormalities in Apert syndrome

Answer 260

Symmetric syndactyly of the hands and feet

Question 261

Limb abnormalities in Carpenter syndrome

Answer 261

Partial digital syndactyly and preaxial polysyndactyly of the feet

Question 262

Limb abnormalities in Nager syndrome

Answer 262

Extremity anomalies range from hypoplasia to agenesis of the radius, thumbs, and metacarpals.

Question 263

Limb abnormalities in Pfeiffer syndrome

Answer 263

Broad thumbs and halluces; partial syndactyly of the second and third digits has also been identified.

Question 264

A 2-day-old male newborn is evaluated for the skull findings shown in the CT scan. Which of the following best describes the anomaly in this patient? (moth-eaten) ``` A) Brachycephaly B) Kleeblattschädel deformity C) Posterior plagiocephaly D) Scaphocephaly E) Trigonocephaly ```

Answer 264

B) Kleeblattschädel deformity This CT scan shows craniosynostosis of multiple sutures including the coronal, lambdoid, and a portion of the sagittal suture, which is characteristic of a Kleeblattschädel deformity. Brachycephaly is characterized by bicoronal craniosynostosis alone and is most commonly seen in syndromic craniosynostosis. Scaphocephaly is isolated involvement of the sagittal suture and is the most common type of craniosynostosis. Metopic synostosis is the cause of trigoncephaly and this suture is open in the CT scan. Lambdoid, which produces posterior plagiocephaly synostosis, is seen in the CT scan but not in isolation and is the least common of the single suture synostoses.

Question 265

A 10-year-old boy with a history of fronto-orbital advancement for craniosynostosis as an infant is brought to the office for evaluation. He would like to play football, but his parents are concerned about a persistent calvarial defect. Physical examination shows a 4 × 4-cm area of the right forehead that has no bony coverage; dural pulsations are observed. Which of the following is the most appropriate management? A) Fabrication of a custom implant B) Reconstruction with methylmethacrylate C) Split calvarial bone grafting D) Split rib grafting E) Observation and delayed treatment until after completion of growth

Answer 265

C) Split calvarial bone grafting This is a growing child with a large calvarial defect in a problematic location. Therefore, the defect needs to be addressed sooner rather than later, due to the potential risk for trauma and the child’s desire to be active. The gold standard for reconstruction of defects of this size and location is split calvarial bone grafting. Rib grafting would work, but would necessitate another donor site and contouring issues. A custom implant or methylmethacrylate would fix the problem in the short term, but would not grow with the child, necessitating additional surgery in the future.

Question 266

A 6-month-old girl is brought to the office for evaluation of an isolated cleft of the soft palate. A photograph is shown. Which of the following genes is most likely defective in this patient? (lip pits) A) FGFR2 B) IRF6 C) MSX1 D) SHH E) TGF-beta

Answer 266

B) IRF6 The patient has Van der Woude syndrome, an autosomal dominant condition affecting 1:35,000 to 1:100,000 persons. The pathognomonic features include lower lip pits, as seen in the photograph, and clefting of the palate, lip, or both. This syndrome is the most common single-gene cause of cleft lip and palate. IRF6 codes for a transcription factor that is involved in the early development. The mutated copy of the gene decreases the amount of active protein and results in the defects associated with this syndrome and popliteal pterygium syndrome. The remaining genes and their products have been implicated in craniofacial morphogenesis and etiopathogenesis of cleft lip/palate. Nevertheless, none are associated with lip pits or are an autosomal dominant cause of facial clefting.

Question 267

``` According to the Tessier cleft classification types, at which of the following areas is the most common facial cleft centered? A) Frontonasal suture B) Frontozygomatic suture C) Nasomaxillary buttress D) Superior orbit E) Zygomaticotemporal suture ```

Answer 267

E) Zygomaticotemporal suture Patients with rarer facial clefts are classified according to the system proposed by Tessier in 1973. Each cleft is classified by the soft-tissue findings and the bony defects as they relate to the orbit. Nos. 0 through 7 occur in the lower half of the face as delineated by the orbital commissure, and Nos. 9 through 14 occur in the upper half of the face. The most common facial cleft is the No. 7 cleft centered in the region of the zygomaticotemporal suture. It includes variable expression of macrostomia and hypoplasia of the zygoma.

Question 268

``` Which of the following congenital clefts involves the lower eyelid? A) 0 B) 1 C) 5 D) 8 E) 9 ```

Answer 268

C) 5 Craniofacial clefts are highly variable and can range from mild forme fruste to severe with involvement of all the layers of the soft tissue and skeletal structures. Tessier described a classification system still in use today based on the bony and soft-tissue landmarks involved in the clefts. Corrective surgery is required in stages, with the timing based on the level of functional problems, including ocular exposure, and airway problems early on. The clefts can be broadly grouped into midline and paramedian clefts (numbers 0 to 14, 1 to 13, 2 to 12), oro-nasal-ocular clefts (numbers 3 to 11, 4 to 10, 5 to 9), and lateral clefts (numbers 6, 7, and 8). In this system, the numbers 0 to 6 refer to clefts below the orbital and numbers 8 to 14 are above the orbit, with 7 being truly lateral.

Question 269

A 4-month-old male infant is brought to the office for evaluation of an abnormal head shape that has been present since birth. The patient is developmentally appropriate and has no other abnormalites. A photograph is shown. At which of the following ages does the involved suture normally fuse? (trigonocephaly) ``` A) 2 weeks B) 8 months C) 3 years D) 10 years E) 22 years ```

Answer 269

B) 8 months The patient in the photograph has metopic craniosynostosis. The primary clinical features of trigonocephaly are a palpable metopic ridge, bossing with thickened bone at the glabella, bifrontal narrowing, recession of the superior orbital rims, temporal narrowing, and hypotelorism. Trigonocephaly is also known as a keel-shaped deformity. The metopic suture is the first cranial suture to fuse and this usually occurs at approximately 8 months of age. The other cranial sutures generally fuse in adulthood. Treatment depends on the age of presentation and extent of deformity. Options for management are varied and range from no intervention for minimal deformity, burring of the metopic ridge only, endoscopic synostectomy with helmet therapy, and bilateral fronto-orbital advancement.

Question 270

A 23-year-old man comes to the office because of a progressive 15-year history of severe unilateral volume loss in the face. The patient says he is unhappy with the changes in his facial appearance but has not noted any changes recently. On examination, volume loss is significant and appears to be limited to the soft tissue. No bony deficit is noted. Which of the following is the most appropriate management? A) Alloplastic bony augmentation of the maxilla B) Autologous soft-tissue augmentation with a cross-facial nerve graft followed by microvascular gracilis muscle transfer C) Autologous soft-tissue augmentation with a microvascular parascapular flap D) Autologous soft-tissue augmentation with a pedicled temporalis muscle flap E) Hyaluronic acid augmentation of the soft tissues

Answer 270

C) Autologous soft-tissue augmentation with a microvascular parascapular flap It is most likely that this patient has progressive, but now stable, hemifacial atrophy, or Parry-Romberg syndrome. The course is characterized by progressive unilateral atrophy of the soft tissues of the face. The underlying skeleton may be affected in severe forms of the disease. Surgery is indicated when the changes stabilize. The recommended treatment is free tissue transfer, preferably a microvascular parascapular flap, followed by a secondary autologous fat grafting for refinement. Augmentation of the maxilla is not indicated in the absence of bony atrophy. Staged cross-facial nerve grafting followed by microvascular gracilis transfer is indicated for absence of facial nerve function. A pedicled temporalis muscle flap would likely not provide sufficient bulk where needed and potentially leave a hollow at the donor site. Alloplastic augmentation of the soft tissues with hyaluronic acid is only approved for volume loss due to human immunodeficiency virus infection.

Question 271

``` A 9-year-old boy is brought to the office because of a long-standing history of pulsatile exophthalmos and proptosis of the right side. CT scan shows absence of the greater sphenoid wing. Which of the following is the most likely diagnosis? A) Hemifacial microstomia B) Neurofibromatosis C) Tessier No. 5 cleft D) Treacher Collins syndrome E) Unilateral coronal synostosis ```

Answer 271

B) Neurofibromatosis Although each of the disorders or syndromes listed is associated with a periocular soft-tissue or orbital abnormality, only neurofibromatosis is associated with agenesis of the sphenoid wing. While plastic surgeons primarily manage the soft-tissue manifestations of neurofibromatosis, the disorder is associated with skeletal abnormalities including sphenoid wing aplasia, macrocephaly, scoliosis, and tibial bowing. Sphenoid wing aplasia causes brain herniation through the middle cranial fossa into the orbit with pulsatile exophthalmos, vertical dystopia, and an enlarged orbital volume. Surgical correction involves bone grafts or titanium mesh to reconstruct the sphenoid wing with reduction of the temporal lobe into the middle cranial fossa. Unilateral coronal synostosis is characterized by foreshortening of the orbital roof on the affected side. Synostosis of the coronal suture causes superior displacement of the lesser wing of the sphenoid with the radiographic appearance of the harlequin deformity. Patients may have strabismus occurring secondary to relative paresis of the superior oblique muscle. The child may tilt the head to compensate. Treacher Collins syndrome is associated with lower eyelid colobomas, zygomatic hypoplasia with hypoplastic or absent zygomas and inferolateral orbital rim clefting, absence of eyelashes, and bilateral mandibular hypoplasia. Hemifacial microstomia is a variant of craniofacial microsomia, distinguished by the presence of concomitant ocular abnormalities, including epibulbar dermoids. The Tessier No. 5 cleft begins behind the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated.

Question 272

``` A 12-year-old girl is evaluated for left-sided progressive hemifacial atrophy. Onset of symptoms started at 10 years of age. She has a history of migraines and experienced a seizure 1 year ago. Physical examination shows left-sided facial atrophy including cheek depression, enophthalmos, and dry skin with hyperpigmentation and alopecia. Maxillofacial CT scan shows associated skeletal changes. Which of the following clinical features is most likely associated with the early onset of the disease process? A) Enophthalmos B) Facial paralysis C) Hyperpigmentation D) Seizure disorder E) Skeletal atrophy ```

Answer 272

E) Skeletal atrophy Progressive hemifacial atrophy, also known as Parry-Romberg syndrome, is a rare disorder characterized by a self-limiting, slow, progressive, unilateral facial atrophy affecting the skin, subcutaneous tissue, muscle, and osteocartilaginous adjacent structures. It involves one or more trigeminal dermatomes with symptoms usually appearing in the first or second decade of life. The progression of atrophy usually lasts a variable 2 to 10 years. The etiology and pathogenesis of this disease are uncertain. The severity of soft-tissue involvement appears to be independent of age of onset, facial distribution, or extent of the disease process; however, age of onset has been shown to correlate with the degree of bony hypoplasia. Onset of the disease at an earlier age during skeletal immaturity has a higher likelihood of skeletal involvement. Clinical features of hemifacial atrophy include enophthalmos, cheek depression, deviation of the mouth and nose towards the affected side, ipsilateral show of teeth, and tongue atrophy. In addition, extracutaneous involvement has been described, including hemiatrophy of the contralateral or ipsilateral arm, trunk or leg, as well as dental, ocular, and neurologic abnormalities such as enophthalmos, headaches, facial pain, and seizures. An age correlation with these features has not been demonstrated. Facial paresthesia has been described but motor function remains intact.

Question 273

A 6-month-old girl is evaluated because of a “flat head.” Physical examination shows right posterior flatness of the cranium with a transcranial difference of 7 mm (minimal to moderate), and mastoid bossing on the ipsilateral side. The right ear and left forehead are anteriorly displaced. The parents report that the child prefers to turn her head to the right. The patient is otherwise healthy and reaching developmental milestones. Which of the following is the most appropriate next step in management? A) Cranial orthotic molding helmet B) Crib positioning and physical therapy only C) CT scan of the head D) X-ray studies of the skull E) Reassurance

Answer 273

C) CT scan of the head The clinical findings are suggestive of right unilateral lambdoidal synostosis (synostotic plagiocephaly). If craniosynostosis is suspected, the child may need surgical correction of the defect. Therefore, it is incorrect to pursue reassurance and conservative therapy without confirming the presence of a prematurely fused suture. Lambdoidal synostosis is the least common premature fusion of a suture (2 to 3% of all synostosis cases). The physical findings have some similarities and distinct differences from the frequently seen positional deformational plagiocephaly. Positional plagiocephaly can have ipsilateral forehead protuberance and anterior displacement of the ipsilateral ear. Lambdoid synostosis, on the other hand, is associated with ipsilateral mastoid bossing and protuberance of the contralateral forehead. The position of the ear, once another landmark to help distinguish between positional and synostotic plagiocephaly, with lambdoid synostosis associated with posterior displacement of the ipsilateral ear, has been questioned in recent years. A literature review showed that the ipsilateral ear has been reported to be nondisplaced, anteriorly displaced, or posteriorly displaced. Therefore, the significance of the position of the ear is unclear at this time. There is no need for plain film series before head CT scan. Imaging studies are performed to confirm synostosis before surgical intervention.

Question 274

``` An 8-hour-old male newborn is examined in the neonatal intensive care unit for epibulbar dermoids. X-ray studies show fused cervical vertebrae. Which of the following additional features is most consistent with this diagnosis? A) Cleft palate B) Lower lip pits C) Microtia D) Syndactyly E) Telecanthus ```

Answer 274

C) Microtia Oculoauricular dysplasia (Goldenhar syndrome) may have many different possible manifestations, but is typically characterized by ear anomalies, epibulbar dermoids, facial and mandibular hypoplasia, and vertebral anomalies. Cleft palate, although it may be encountered in patients with Goldenhar syndrome, is not generally regarded as a classic finding and is less common than microtia in affected patients. Lower lip pits are a finding suggestive of van der Woude syndrome, the most common orofacial clefting syndrome, rather than Goldenhar syndrome. Syndactyly is not generally regarded as a component of Goldenhar syndrome. Telecanthus is not a classic finding in patients with Goldenhar syndrome.

Question 275

``` A 4-week-old male newborn is evaluated for complete left unilateral cleft of the lip and palate. Genetics workup shows IRF6 gene mutation. Which of the following additional physical findings is most likely in this patient? A) Agenesis of the corpus callosum B) Glossoptosis C) Hypodontia D) Medialized internal carotid arteries E) Preauricular accessory tag ```

Answer 275

C) Hypodontia The mutation for van der Woude syndrome has been mapped to the interferon regulatory factor 6 (IRF6) gene in chromosome 1. The inheritance is autosomal dominant with variable penetrance. Other associated findings include hypodontia (as high as 86%), high arched palate, lip pits, syngnathia, and ankyloglossia. Agenesis of the corpus callosum and preauricular skin tags are not associated with van der Woude syndrome. Glossoptosis is associated with Pierre Robin sequence. Medialized internal carotids can be seen in patients with velocardiofacial syndrome.

Question 276

``` The association between craniofacial defects and cardiac malformations in patients with velocardiofacial syndrome results from a disruption in the cellular development of which of the following? A) Cardiogenic mesoderm B) Ectodermal placodes C) Lateral plate mesoderm D) Neural crest E) Somites ```

Answer 276

D) Neural crest Neural crest cells derive from the ectoderm layer of the developing embryo, specifically the neuroectoderm of the forebrain, midbrain, and hindbrain. The neural crest contributes significantly to the craniofacial region, and also to the conotruncal endocardial cushions that are responsible for dividing the outflow tract of the heart into separate pulmonary and aortic components. Therefore, defects in neural crest cell development will frequently result in malformations of both the craniofacial area and cardiac septum. Examples of this association are: Treacher Collins syndrome, Pierre Robin sequence, 22q11.2 deletion syndrome, and oculoauriculovertebral syndrome. The cardiogenic mesoderm derives from splanchnic (visceral) mesoderm, and contributes the precursor cells that differentiate into the endocardium and myocardium. It does not contribute to the head and neck. Ectodermal placodes are separate from the neuroectoderm and consist of areas of thickened ectoderm that guide neural crest cells in forming the cranial sensory ganglia. Lateral plate mesoderm is a derivative of the mesoderm layer of the embryo and contributes to the laryngeal cartilages and associated connective tissue of the head and neck. Paraxial mesoderm produces somites that form the skull, meninges, voluntary craniofacial musculature, and dermis and connective tissue of the dorsal aspect of the head.

Question 277

A female newborn is evaluated after an uneventful delivery because of microtia of the left ear. The face appears otherwise symmetrical. Which of the following studies is most appropriate to obtain? A) CT scan to rule out tethered cord B) Echocardiography to rule out ventricular septal defect C) Extremity x-ray studies to rule out limb-length discrepancies D) Magnetic resonance angiography of the brain to rule out ipsilateral cerebral artery anomalies E) Ultrasonography of the kidney to screen for structural anomalies

Answer 277

E) Ultrasonography of the kidney to screen for structural anomalies Syndromic ear anomalies are associated with an increased risk of renal anomalies in syndromes such as brachio-oto-renal syndrome, Townes-Brocks syndrome, etc. Cardiac abnormalities are not associated with isolated microtia, but they are associated with extended spectrum hemifacial microsomia (oculoauriculovertebral dysplasia). Magnetic resonance angiography of the brain to rule out internal cerebral artery anomalies is indicated in children suspected of PHACE syndrome (P, posterior fossa; H, hemangioma; A, arterial anomalies; C, cardiac defects; E, eye anomalies) when clinical symptoms include a large segmental hemangioma. Tethered cord is not associated with ear anomalies. It is a concern with myelomeningoceles and spina bifida, and with Chiari malformations. Limb-length discrepancies are not associated with microtia.

Question 278

A 28-year-old man is evaluated because of the facial deformity shown in the photograph. (unilateral soft tissue and bony loss). Three years ago, he underwent resection of an infratemporal malignancy and intraoperative alloplastic reconstruction of bony defects. Postoperatively, he underwent extensive radiation therapy. Which of the following is the most appropriate method for restoring facial volume in this patient? A) Custom-fabricated alloplastic implantation B) Dermal fat grafting C) Implantation of layered acellular dermis D) Parascapular free flap reconstruction E) Serial fat grafting

Answer 278

D) Parascapular free flap reconstruction The patient described has marked loss of facial soft-tissue volume related to the initial tumor resection and the adverse effects of postoperative radiation treatment. The best method for restoring soft-tissue volume is a scapular free flap. This method of reconstruction has advantages over the others listed. The free scapular flap does not rely on the damaged and scarred soft-tissue envelope for vascular support and, thus, it will retain its volume. In contrast, fat grafting, dermal fat graft, and layered acellular dermis all undergo some resorption, especially in this poorly vascularized recipient site. The scapular flap is of sufficient thickness to correct even a volume defect of this size. Although the other soft-tissue reconstructive options can improve contour, the volume required in this patient cannot be achieved with these modalities alone. The use of an alloplastic reconstruction alone can improve mid-facial volume, but will not address the lower third deficit. In addition, there is a moderate risk of extrusion and/or infection with this technique alone.

Question 279

``` An 8-month-old female infant is brought to the office by her parents. Physical examination shows a wedge-shaped skull with a keel formation on the forehead, close-set eyes, and hollowness of the temporal fossa on both sides of the head. Premature cranial suture ossification at which of the following sites is the most likely cause of this patient’s condition? A) Bicoronal B) Lambdoid C) Metopic D) Sagittal E) Unicoronal ```

Answer 279

C) Metopic Craniosynostosis refers to the premature fusion of one or more cranial sutures that make up the cranial vault and cranial base. Once this fusion occurs prematurely, the growth of the skull is altered and the development of the head takes on a characteristic morphologic shape that is determined by the fusing suture. Trigonocephaly is classically characterized by a typically wedge-shaped skull when viewed from above; it originates from a premature stenosis of the metopic suture followed by a bilateral growth restriction of the forehead. This results in bitemporal narrowing and hypotelorism. Plagiocephaly or unilateral coronal synostosis is characterized by the flattening of the forehead and frontoparietal region ipsilateral to the fused suture. As a result of this fusion, a compensatory bulge occurs in the opposite frontoparietal skull. The temporal fossa on the side of the fusion is convex and the ear becomes anteriorly displaced. The petrous portion of the temporal bone that contains the glenoid fossa is also displaced forward and the articulation with the mandible is displaced forward as a result. The nasal radix is also deviated toward the fused side and the tip of the nose is turned to the opposite side. Ridging of the sagittal suture forms a narrow biparietal skull. Scaphocephaly shows compensatory growth in the frontal region or frontal bossing and/or occipital coning. There is associated enlargement of the head circumference. Sagittal synostosis remains the most frequent of the nonsyndromic craniosynostosis. Unilateral lambdoid synostosis has ridging of the lambdoid suture, ipsilateral parieto-occipital flattening, prominence of the mastoid air cells, posterior displacement of the ear on the side of the occipital flattening, and scoliosis of the base of the skull, resulting in curvature of the cervical spine.

Question 280

A 4-month-old female infant is brought to the office for evaluation. A photograph is shown. Which of the following additional abnormalities are most likely associated with this patient’s condition? (bilateral macrostomia) A) Glossoptosis and cleft palate B) Hydronephrosis of the kidneys and hearing loss C) Lacrimal duct obstruction and coloboma of the eyelids D) Posterior fossa abnormalities and stenotic cerebral arteries E) Supernumerary teeth and duplicate maxilla

Answer 280

E) Supernumerary teeth and duplicate maxilla The patient described has bilateral macrostomia, also known as Tessier No. 7 cleft, the most common facial cleft in the Tessier classification system. This resulted from the failure of fusion between the maxillary and mandibular processes. Repair of the macrostomia can be undertaken in the first months of life. Duplicated maxilla has been reported in as high as 39% of patients with macrostomia. It is defined as having multiple supernumerary teeth and marked overlap of the maxillary arches. Other craniofacial findings such as mild mandibular/condylar anomalies and alveolar clefting have also been reported. The anatomy can be defined by three-dimensional CT scan and panoramic x-ray study (Panorex). Therefore, it is important to continue to observe these children with dental and orthodontic workups as they grow, even after the repair of the macrostomia. Glossoptosis and cleft palate are associated with Pierre Robin sequence. Renal anomalies may be associated with congenital anomalies of the ears, such as in branchiootorenal syndrome. Posterior fossa abnormalities and intracranial arterial anomalies are associated with PHACE syndrome. (P, posterior fossa; H, hemangioma; A, arterial anomalies; C, cardiac defects; E, eye anomalies). Coloboma of the eyelids and lacrimal gland anomalies are associated with Tessier No. 3 clefts (oro-nasal-ocular clefts). Macrostomia is most commonly associated with hemifacial microsomia.

Question 281

``` A 12-year-old girl is brought to the office because of an enlarging mass of bone in the maxilla, precocious puberty, and café-au-lait spots. No aesthetic distortion or functional impact from the lesion is noted. She has intermittent bone pain in the upper extremities. Which of the following treatments is most appropriate in this patient? A) Calcitonin B) Doxycycline C) Pamidronate D) Prednisone E) Radiation therapy ```

Answer 281

C) Pamidronate The patient described has McCune-Albright syndrome. It is a triad of polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots. Surgical intervention is not indicated in asymptomatic lesions. The general indications for surgery are aesthetic imbalance, facial disfigurement, distortion of functional occlusion, orbital dystopia, ocular proptosis, impingement on neural foramina, impingement on the optic nerve, and intractable pain. It is debatable whether contour reduction or resection and replacement of the afflicted bone is preferable. Recent literature seems to favor the latter. Biopsy is generally not needed for diagnosis, as imaging studies are generally specific for fibrous dysplasia. Equivocal imaging may warrant biopsy to confirm the diagnosis. In general, medical treatment has had little impact on fibrous dysplasia. Early attempts at treatment included chemotherapy, glucocorticoids, calcitonin, and radiation therapy, which were all unsuccessful. Radiation therapy should never be used, as it clearly promotes sarcomatous degeneration of fibrous dysplasia. Pamidronate, a bone resorption-inhibiting bisphosphonate, has been shown in multiple small studies to decrease pain associated with fibrous dysplasia and decrease bone turnover. Nonsteroidal anti-inflammatory drugs can be effective, as can narcotic analgesics in pain control. Referral to a pain specialist may be necessary.

Question 282

A 10-month-old male infant with 22q11.2 deletion and preoperative basic metabolic profile within the reference range is scheduled for palatoplasty to treat a soft palate cleft. After surgery, which of the following laboratory studies is most appropriate within the first 6 hours? A) Fluorescent in situ hybridization B) Measurement of serum phosphate concentration C) Measurement of serum calcium concentration D) Measurement of serum potassium concentration E) Measurement of serum sodium concentration

Answer 282

C) Measurement of serum calcium concentration Patients with 22q11.2 deletion may have cardiac abnormalities, renal issues, immune deficiencies, speech and feeding delays, mental health issues, developmental delay, cleft palate, and calcium regulation disturbances. Postoperatively, patients with 22q11.2 deletion may be at higher risk than non-deletion patients for hypocalcemia and should have postoperative calcium concentration checked in the first 6 hours postoperatively to identify and correct any abnormalities. Failure to identify postoperative hypocalcemia may lead to increased morbidity and mortality. Fluorescent in situ hybridization is a genetic test that is unnecessary in this patient who already has the diagnosis of 22q11.2 deletion. The sodium, potassium, and phosphate values are not routinely obtained early postoperatively.

Question 283

``` A newborn in the neonatal intensive care unit is small for gestational age and has choanal atresia, cryptorchidism, a ventricular septal defect, and abnormal external ear framework. Prenatal findings included growth retardation with poor fetal movement. Which of the following additional characteristics is most likely in this newborn? A) Bicoronal craniosynostosis B) Coloboma C) Radial hypoplasia D) Syndactyly E) Webbing of the neck ```

Answer 283

B) Coloboma The newborn described has CHARGE (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome. Bicoronal craniosynostosis is associated with Crouzon, Apert, and Pfeiffer syndromes, which do not include all of the other defects. Radial hypoplasia is associated with VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb anomalies) syndrome. Syndactyly can be seen in many conditions including Down syndrome, Apert syndrome, and Carpenter syndrome. Webbing of the neck can be commonly seen in Noonan syndrome, Klippel-Feil syndrome, and Turner syndrome.

Question 284

A 3-year-old boy is brought to the office because of abnormal head shape since birth. Photographs are shown. The patient is developmentally appropriate and has no other medical problems. Which of the following is the most appropriate surgical procedure for correction of this deformity? (sagittal suture synostosis) A) Bilateral fronto-orbital advancement B) Endoscopic craniotomy and helmet therapy C) Monobloc distraction D) Spring-mediated cranioplasty E) Total vault reconstruction

Answer 284

E) Total vault reconstruction The patient in the photograph has the classic features of sagittal suture synostosis. The primary clinical features of scaphocephaly are lengthening of the cranial vault in the anterior-posterior dimension, an anteriorly displaced cranial vertex, bullet-shaped occiput, biparietal and/or temporal narrowing and frontal bossing. All of these features are present in this patient. Because of the patient’s late clinical presentation for treatment, the most appropriate surgical procedure would be a total cranial vault reconstruction of which there are many variations and techniques. Because of the patient’s age, he is not a candidate for either endoscopic-assisted wide strip craniotomy or spring-mediated cranioplasty. Ideal candidates for either procedure are ideally under age 6 months and 9 months, respectively, for an adequate clinical result. The results of both techniques have been shown to be comparable to traditional open remodeling procedures and are generally less invasive surgical procedures. Although the monobloc distraction may allow the opportunity to remodel the forehead, there is no clinical indication for midface distraction in the patient described. A monobloc distraction alone will not correct the other abnormal features of scaphocephaly. It is not an indicated procedure for the correction of isolated sagittal suture synostosis. Bilateral fronto-orbital advancement may allow the opportunity to remodel the forehead, but it will not address the other cranial vault abnormalities. There is no indication for remodeling the supraorbital bar in this case.

Question 285

``` Which of the following best describes the orbital deformities observed in a patient with Apert syndrome? A) Enophthalmos B) Esotropia C) Exophthalmos D) Exorbitism E) Exotropia ```

Answer 285

D) Exorbitism Exorbitism describes bulging of the globe due to decreased volume of the bony orbit, whereas exophthalmos describes protrusion of the globe due to increased orbital soft-tissue contents. There is decreased orbital bony volume due to craniosynostosis in Apert syndrome. Exotropia and esotropia describe strabismus, in which the eyes are deviated laterally (outward) or medially (inward), respectively. Enophthalmos is a condition where the globe is recessed in the orbit. This can be due to increased bony volume or malposition of the bony orbit after trauma and/or under-correction or repositioning of the bony skeleton.

Question 286

In patients with syndromic craniosynostosis, successful mid facial distraction is most likely to result in which of the following outcomes? ``` A) Decreased ANB angle B) Decreased exorbitism C) Decreased upper airway volume D) Increased negative overjet E) Increased SNB angle ```

Answer 286

B) Decreased exorbitism Distraction osteogenesis allows anterior movements of the midface that cannot be achieved with conventional Le Fort III and bone grafting. The advancement obtained with single-stage midfacial advancement is limited by soft-tissue tension to 10 to 12 mm, and bone grafting is required to buttress the advanced segments. These procedures have long operative times and major blood loss, and some reports suggest long-term relapse presumably due to bone graft resorption. In contrast, the gradual soft-tissue creep achieved with distraction allows osseous advancement in excess of 30 mm. In addition, distraction osteogenesis obviates the need for bone grafting and relapse is minimal. The effect of successful midfacial advancement is a decrease in SNB, an increase in ANB, decrease in negative overjet, and an increase in upper airway volume. The latter change often leads to an improvement in obstructive sleep apnea. Exorbitism is reduced by the increase in orbital volume.

Question 287

``` A male newborn is emergently intubated in the prenatal intensive care unit because of severe respiratory distress. Examination shows marked mandibular micrognathia and a cleft palate. Nasopharyngoscopy shows glossoptosis, laryngomalacia, and laryngeal webbing. Which of the following is the most appropriate treatment for the airway compromise? A) Extubation and prone positioning B) Insertion of a nasal airway C) Mandibular distraction D) Tongue-lip adhesion E) Tracheostomy ```

Answer 287

E) Tracheostomy Treatment of airway compromise associated with Robin sequence depends on the severity and etiology of the airway obstruction. Obstruction is often caused by glossoptosis (tongue retropositioning into the oral pharynx), but this may not be the only cause of respiratory distress in these infants. Additional anatomic and physiologic causes of poor respiration (e.g., central apnea, laryngeal anomalies) have been documented in Robin sequence patients and can limit treatment options. Mandibular distraction and tongue-lip adhesion are both effective addressing the glossoptosis and upper airway obstruction, but will have no effect on the subglottic laryngomalacia and webbing. Similarly, prone positioning and nasal airway do not address the lower airway causes of airway obstruction in this child. Only tracheostomy will bypass the laryngeal anomalies and ensure adequate airway patency.

Question 288

A 2-week-old male newborn is brought to the office for evaluation of median craniofacial dysraphia. His parents say that aside from the deformity, the child is thriving. Physical examination shows Tessier No. 0 and 14 clefts. A clinical photograph and a three-dimensional CT scan are shown. Which of the following additional findings is most likely in this patient? A) Choanal atresia B) Contact between the dura and ectoderm through the anterior fontanelle C) Failure of closure of the foramen cecum D) Heterotopic glial tissue E) Rathke pouch cyst

Answer 288

C) Failure of closure of the foramen cecum The classification scheme by Tessier is perhaps the most accepted and basic approach to describe these rare craniofacial clefts. As it only provides an anatomical description, others have further developed description schemes. Some have an embryonic emphasis to further characterize these disorders. These severe clefts can be associated with encephalocele, which if not repaired can be life-threatening. Nasal dermoids arise from contact between dura and ectoderm through the foramen cecum. These can be dangerous if there is intracranial extension. Heterotopic glial tissue is equivalent to the term glioma because these are generally not connected to the intracranial space and are treated as benign lesions. The Rathke pouch occurs during development when the stomodeum ectoderm invaginates toward the hypophysis and remnants are usually located in the nasopharynx as a cyst. An encephalocele is similar to a glioma but contains meninges and/or brain (encephalomeningocele) and can communicate with the ventricle (encephalomeningocystocele). Fifteen percent of these are intranasal. Resection of these without knowing about their intracranial communication can be disastrous. Left untreated, these lesions can significantly increase the risk of meningitis and be life-threatening.

Question 289

A 2-year-old girl is brought to the office because of the lower eyelid colobomas and malar deficiency shown in the photograph. Which of the following syndromes is most likely? ``` A) Apert B) Crouzon C) Goldenhar D) Pfeiffer E) Treacher Collins ```

Answer 289

E) Treacher Collins Bilateral lower eyelid colobomas are commonly found in patients with Treacher Collins syndrome (TCS). TCS is also known as mandibulofacial dysostosis, first and second branchial arch syndrome, and Franceschetti-Zwahlen-Klein syndrome. Edward Treacher Collins described the syndrome in 1900. It is autosomal dominant with variable penetrance and has an incidence of 1 in 7,000 live births. It has significant dysmorphology, which includes lower eyelid colobomas, clefted and hypoplastic zygomas, clefted lateral orbit, hypoplastic mandible, lateral canthal vertical dystopia, antimongolian palpebral fissure, ear deformities, long anterior sideburns, anterior open bite, cleft palate, and macrostomia. Crouzon, Apert, and Pfeiffer syndromes involve craniosynostosis, typically bicoronal. These patients also have underdevelopment of the mid face also. They do not have any eyelid abnormalities. Apert patients also may have a cleft palate and syndactyly of the hands and feet. Goldenhar syndrome involves epibulbar dermoids of one or both eyes and underdevelopment of one or both sides of the face. It is also known as hemifacial and bifacial microsomia. The soft tissue as well as the bone is hypoplastic.

Question 290

``` A 20-month-old girl is brought to the office for evaluation of mid face hypoplasia, craniosynostosis, and anomalies of the hands and feet. The most likely cause of these findings is a genetic error in which of the following? A) 22q.11 B) FGFR2 C) IRF6 D) TCOF1 ```

Answer 290

B) FGFR2 The patient described has Apert syndrome. This autosomal dominant syndrome is characterized by bicoronal craniosynostosis leading to turribrachycephaly, mid face hypoplasia, and complex hand and foot syndactyly. Patients with Crouzon syndrome, an autosomal dominant disorder, typically have craniosynostosis involving the coronal, sagittal, and lambdoid sutures, as well as turribrachycephaly. Other findings include mid face hypoplasia, exorbitism, and proptosis. The extremities are normal. Defects in the Fibroblast Growth Factor Receptor-2 (FGFR2) are found. 22q deletion syndrome, which has several presentations, including DiGeorge syndrome, velocardiofacial syndrome, and Shprintzen syndrome, is caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2; i.e., on the long arm of one of the pairs of chromosome 22. Characteristic signs include congenital heart disease, cleft palate, learning disabilities, mild elongation of facial features, and mental illness in the teenage years. Mutations in the IRF6 gene cause van der Woude syndrome. Van der Woude syndrome is an autosomal dominant form of cleft lip and palate. Affected individuals usually have lip pits. Mutations in the TCOF1 gene cause Treacher Collins syndrome. The official name of this gene is “Treacher Collins-Franceschetti syndrome 1.” Patients with Treacher Collins syndrome, or mandibular dysostosis, have hypoplasia of the zygoma, maxilla, and mandible, downward slanting of the palpebral fissures, colobomas of the lower eyelids, absence of eyelashes, and auricular defects.

Question 291

A 45-year-old man comes to the office because of slowly progressive unilateral loss of facial volume on the right side that began 30 years ago. Physical examination shows facial asymmetry and a line of cutaneous sclerosis on the forehead. No abnormalities in ocular mobility and visual acuity are noted, and no malocclusion is present. Which of the following is the most appropriate management? A) Change of antiretroviral medications B) Immunosuppression with oral administration of corticosteroids and methotrexate C) Restoration of skeletal support with bone grafting D) Soft-tissue augmentation with fat grafting E) Observation only

Answer 291

D) Soft-tissue augmentation with fat grafting Parry first described the syndrome of progressive facial atrophy in 1825, followed by Romberg in 1846. Parry-Romberg syndrome (also known as progressive hemifacial atrophy) is a rare neurocutaneous syndrome characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. The syndrome often begins with a circumscribed patch of scleroderma in the frontal region of the scalp which is associated with a loss of hair and the appearance of a depressed linear scar extending down through the mid face on the affected side. This scar is referred to as a “coup de sabre,” and is indistinguishable from the scar observed in frontal linear scleroderma. Symptoms and physical findings usually become apparent during the first or early during the second decade of life. The average age of onset is 9 years, and the majority of individuals experience symptoms before age 20 years. The disease may progress for several years before eventually going into remission. Most patients do not have severe enough disease to warrant immunosuppression. However, for those with more severe and progressive disease, treatments used include methotrexate (for which there is limited evidence in linear scleroderma), corticosteroids, cyclophosphamide, and azathioprine, but benefits are unclear. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. When Parry-Romberg syndrome is severe, the skeleton may be affected, and bony restoration may be required. Soft-tissue reconstruction in patients with severe disease may require free tissue transfer. It is much more common to begin reconstruction with autologous fat transfers. Off-the-shelf cutaneous fillers have also been employed. The use of highly active antiretroviral therapy with protease inhibitors can result in a syndrome of peripheral wasting, facial fat atrophy, and central adiposity in as many as 64% of patients who are HIV-positive who are treated with this regimen for 1 year. This is usually a bilateral process, but also responds to similar treatment options. Switching antiretroviral drugs may be effective but is only employed in those patients with complete viral suppression. Injections of poly-L-lactic acid (Sculptra) are now licensed for cosmetic management of facial lipoatrophy.

Question 292

``` Patients with hemifacial microsomia have an increased incidence of which of the following? A) Craniosynostosis B) Glossoptosis C) Hemihypertrophy D) Microstomia E) Velopharyngeal insufficiency ```

Answer 292

E) Velopharyngeal insufficiency Hemifacial microsomia (HFM) is the second most common congenital anomaly, with a reported incidence of approximately one in 5,600 live births. It is thought to be a result of vascular injury to the first and second branchial arches during the 30th to 45th day of pregnancy. The presentation of HFM is highly variable and ranges from mild facial asymmetry and microtia to a severe asymmetry of the orbit and mid and lower faces. Vertebral, cardiac, and renal malformations can also occur with HFM. A number of studies document velopharyngeal insufficiency (VPI) in patients with HFM. This VPI results from a unilateral hypodynamic palate. With this lack of movement, the nasopharyngeal port cannot be closed fully, and the speech is hypernasal. Some patients are able to compensate for the asymmetry of the palatal movement and have normal speech. Approximately 15% of patients with HFM have evidence of VPI based on speech evaluation and nasoendoscopy.

Question 293

A 9-year-old girl is brought for evaluation by her mother because of a 1-year history of headaches and precocious puberty. Physical examination shows café-au-lait spots over her abdomen and a bony prominence of her right parieto-occipital area. CT scan of the calvarium is shown. Which of the following is the most likely diagnosis? (CT with fibrous dysplasia) ``` A ) Klippel-Feil syndrome B ) McCune-Albright syndrome C ) Paget disease D ) Proteus syndrome E ) Renal osteodystrophy ```

Answer 293

B ) McCune-Albright syndrome The entity represented in the CT scan shown is fibrous dysplasia, which, in combination with precocious puberty and café-au-lait spots, is known as McCune-Albright syndrome. These patients typically have polyostotic fibrous dysplasia, most commonly affecting the skull, long bones, and ribs. Affected bone may show minor changes that are detectable only on imaging studies such as CT scans or bone scans. Such scans may also show severe change or overgrowth resulting in impingement of the optic nerves, mass effect on the brain, or disfigurement. The precocious puberty in the scenario described is the result of gonadotropin-independent autonomous ovarian or testicular function and is more common in girls than in boys. Klippel-Feil syndrome is characterized by congenital fusion of any two of the seven cervical vertebrae. Traits of this condition include a short neck, low occipital hairline, and restricted mobility of the upper spine. Paget disease of the bone is also known as osteitis deformans and is a chronic disorder resulting in enlarged, deformed bones. It is typically diagnosed in the third or fourth decade of life by a blood test for alkaline phosphatase. The excessive breakdown and formation of bone can result in weakening of the bone. Proteus syndrome causes atypical bone development and skin overgrowth. It is an extremely rare congenital disorder, and it is variable in its symptoms. Renal osteodystrophy is a bone mineralization deficiency resulting from electrolyte and endocrine abnormalities associated with chronic kidney disease.

Question 294

``` The CT scan shown is obtained from a 21-year-old woman. Which of the following is the risk of transmission of this patient's disease to her offspring? (Treacher Collins) A ) 25% B ) 50% C ) 75% D ) 100% E ) Cannot be determined ```

Answer 294

B) 50% The patient described has the characteristic craniofacial findings of Treacher Collins syndrome, notably hypoplasia of the zygomatic bones and mandible, external ear abnormalities, coloboma (notching) of the lower eyelid, absence of the lower eyelid cilia, and preauricular hair displacement. Mutation of the gene TCOF1 is the only gene known to be associated with Treacher Collins syndrome, and it is inherited in an autosomal dominant fashion.

Question 295

``` A 21-year-old man has an intercanthal distance of 37 mm (N = 30 mm), and an interorbital distance of 35 mm (N = 28 mm). Which of the following is the most likely diagnosis? A ) Esotropia B ) Exophthalmos C ) Exotropia D ) Hypertelorism E ) Pseudohypertelorism ```

Answer 295

D ) Hypertelorism Orbital hypertelorism refers to a condition in which the interorbital distance, measured from dacryon (the junction of the frontal, lacrimal, and maxillary bones) to dacryon is increased. Orbital hypertelorism occurs in the setting of a number of conditions, including frontonasal malformations, craniofrontonasal dysplasia, craniofacial clefts, encephaloceles, and other mostly syndromic disorders. Some authors distinguish orbital hypertelorism from interorbital hypertelorism. In the latter, the distance between the medial orbital walls is increased just as in orbital hypertelorism but the lateral orbital walls are in a normal position. The mean interorbital distance is 28 mm in men and 25 mm in women. Exotropia refers to a form of strabismus where the eyes are deviated outward (laterally), in contrast to esotropia, where the eyes are deviated inward (medially). Either exotropia or esotropia may exist in hypertelorism and data are not provided in the question to make this diagnosis. Pseudohypertelorism, or telecanthus, occurs when the intercanthal distance, defined as the distance between the medial canthal tendon insertions, is increased but the interorbital distance is normal. Telecanthus may give the appearance of hypertelorism, but can be differentiated on plain film x-rays or computed tomography. Exophthalmos refers to protrusion of the globe due to an increase in the size of the orbital contents in the presence of a normal bony orbit. Graves disease is one of the most common causes of exophthalmos. This is in contrast to exorbitism, which is protrusion of the globe due to a decrease in the capacity of the bony orbit, which may be seen in hypertelorism.

Question 296

An otherwise healthy 13-year-old girl comes to the office because of a 3-year history of facial asymmetry that has worsened progressively. Examination shows a coup de sabre deformity on the right with the depression extending to the neck. There is thinning of the skin and fat of the right cheek. Which of the following additional findings is most likely in this patient? A ) Bilateral disease B ) Inflammatory changes in the skin C ) Involvement of the tongue in the disease process D ) Mandibular and maxillary hypoplasia E ) Vascular malformations

Answer 296

D ) Mandibular and maxillary hypoplasia The patient described has Romberg disease, also known as progressive hemifacial atrophy. Hypoplasia is seen in both maxillary and mandibular dental arches. The disorder may be associated with disturbance in normal dental growth, with foreshortening of the dental roots. The disease is of unknown origin, and characteristically it begins in the first or second decade of life as a localized and progressive atrophy of skin and subcutaneous tissue within the dermatome of one of the branches of the trigeminal nerve. The classic earliest sign is the 'coup de sabre,' which affects only about half of the patients. In progressive facial hemiatrophy or Parry-Romberg syndrome, cutaneous inflammation, induration, and adhesion are absent or minimal, and atrophy usually involves only one entire side of the face. The disease is rarely bilateral. Despite the fact that the frontal region is the most commonly affected, the frontal bone is infrequently involved. Vascular malformations are not associated with Romberg disease.

Question 297

A 1-year-old boy is brought to the office because his mother is concerned about the appearance of his mouth (shown). This patient's condition is most likely the result of incomplete merging of which of the following structures? (Unilateral macrostomia) A ) Anterior and posterior hillocks B ) Frontonasal and maxillary prominences C ) Mandibular and maxillary prominences D ) Maxillary prominence and medial nasal process E ) Second and third pharyngeal arches

Answer 297

C ) Mandibular and maxillary prominences The patient described has a transverse facial cleft, or macrostomia, resulting from incomplete merging of the mandibular and maxillary prominences of the first pharyngeal arch. This orofacial cleft, also known as a Tessier No. 7 cleft, can vary in size from a minor lateral displacement of the oral commissure to a more extensive defect involving the skin and muscle of the lateral mouth and cheek; the zygomatic arch; and, rarely, the temporal region. Macrostomia can occur in isolation but is associated more commonly with hemifacial microsomia, occurring in up to 23% of this population. The anterior and posterior auricular hillocks, derived from the first and second pharyngeal arches, respectively, form on either side of the first pharyngeal groove at 6 weeks’ gestation and coalesce to form the external ear. The hillocks begin as swellings of mesenchyme at the upper aspect of the embryonic neck and ascend to the side of the head during development. The confluence of the second and third arches takes place in the upper neck, not the face. Cleft lip results from failed merging of the maxillary prominence and the medial nasal process. The frontonasal prominence forms the central forehead, the nasal and perinasal structures, the central portion of the upper lip, and the premaxilla. Failed merging with the maxillary prominence can result in a Tessier No. 2, No. 3, or No. 4 facial cleft.

Question 298

``` An otherwise healthy 10-month-old female infant is brought to the office because her parents are concerned about the appearance of her head. Examination shows left frontal and left posterior flattening with deviation of the nasal root to the left side. Which of the following is the most appropriate management? A ) Molding helmet B ) MRI of the head C ) Positioning D ) Surgery E ) Observation only ```

Answer 298

D ) Surgery In the scenario described, flattening of the left side of the forehead, deviation of the nasal root to the left side, and flattening of the left occiput are consistent with left coronal synostosis, and surgery is ultimately the treatment of choice. The scenario does not describe deformational plagiocephaly, which may be treated with a molding helmet, positioning, or observation. In an otherwise healthy baby with these findings, there is no indication for an MRI of the head.