Craniofacial Flashcards
A 20-year-old woman is evaluated for facial asymmetry due to loss of volume on one side of the face. She has no history of trauma or infection to that side of her face. Physical examination shows normal dental occlusion with normal bony anatomy and no cranial nerve deficits. She has a mild-to-moderate deficiency of soft tissue along the cheek between the zygomatic and mandibular areas of the face. Which of the following is the most appropriate intervention for correction of this patient’s hemifacial atrophy?
A) Adipofascial free flap
B) Autologous fat grafting
C) Distraction osteogenesis
D) Hyaluronic acid filler
E) Silicone injection
The correct response is Option B.
Romberg disease, also known as progressive hemifacial atrophy (PHA), is an acquired disease causing severe deformity of the facial contour. The therapeutic goals of surgery for patients with PHA are to minimize psychosocial effects and to correct the appearance and function of involved facial structures. PHA usually presents in the first 20 years of life, after which it is slowly progressive but self-limited. The atrophy affects subcutaneous tissue, fat, muscle, and osteocartilaginous structures, creating a sunken hemiface appearance. Epidermal cutaneous involvement is minimal, but the tongue, gingiva, teeth, and palate may also be involved. For cases with minimal-to-moderate soft-tissue defects, autologous fat grafting can provide correction of the contour deformities. For more severe soft-tissue deficits, additional or other modalities such as adipofascial free flaps can be used. In more severe cases with skeletal and/or dental abnormalities, interventions such as distraction osteogenesis and bone grafting may be necessary. The injection of free silicone is not recommended and has been replaced by the use of autologous fat and other injectable substances. Hyaluronic acid may provide a temporary solution, but it is costly.
2018
The patient shown in the photograph is most likely to have which of the following comorbidities?
A) Anosmia
B) Craniosynostosis
C) Epiphora
D) Sensorineural hearing loss
E) Velopharyngeal dysfunction
The correct response is Option C.
The patient pictured has a rare craniofacial (Tessier No. 4) cleft. Rare craniofacial clefts are characterized by variable soft-tissue and bony involvement. This patient has a cleft lip that begins lateral to the philtral column and courses laterally to the alar margin. Additionally, this patient has soft-tissue deficiency of the left medial malar region, as well as medial lower lid malposition and medial canthal dystopia. Of all of the options given, these findings suggest an increased risk for nasolacrimal duct abnormalities or inferior canalicular system malposition. Velopharyngeal dysfunction is common in patients with cleft lip and palate. Anosmia can be present in midline craniofacial anomalies, such as craniofrontonasal dysplasia. Rare craniofacial (Tessier No. 4) clefts are not associated with sensorineural hearing loss or craniosynostosis.
A 3-year-old boy is brought for evaluation of a right frontotemporal cranial defect. A photograph is shown. Which of the following materials is most appropriate for reconstruction?
A) Autologous bone
B) Bone morphogenetic protein (BMP)
C) Calcium phosphate paste
D) Porous polyethylene
E) Titanium mesh
The correct response is Option A.
Autologous bone is the most appropriate material for inlay cranioplasty for a child this age. Each of the other options has been used in the pediatric population, but they carry important limitations. Porous polyethylene can be used to reconstruct large cranial defects, but is expensive to fabricate, has the potential to become unstable in a growing cranium, and has a higher overall infection rate than autologous bone. Bone morphogenetic protein (BMP) has shown promise in animal models for inducing bone formation in large cranial defects, but it is expensive for a defect of this size; it is a powerful mitogen and can result in dural ossification and, potentially, induction of tumor growth. Calcium phosphate pastes also have been advocated but are very expensive and for a defect of this size, the long-term potential osseointegration is dubious. Furthermore, the risk of infection and/or implant extrusion is higher. Titanium mesh may be appropriate for some children with limited life expectancy or functional needs, but these implants can be bent, offer limited impact resistance, and have a higher overall rate of complications than autologous bone.
2018
A newborn male is evaluated in the office for cleft of the soft palate. Physical examination shows severe micrognathia with labored breathing, underdevelopment of the mid face, microtia, and coloboma of the lower eyelids. Mutation in which of the following genes most likely caused these findings?
A) EFNB1
B) FGFR2
C) FGFR3
D) TCOF1
E) TWIST1
The correct response is Option D.
Treacher Collins syndrome, named after Edward Treacher Collins, the English ophthalmologist who first described this condition in 1900, is characterized by widely varying degrees of micrognathia, underdevelopment and/or clefting of the midfacial bones (e.g., zygoma), microtia or anotia with or without hearing loss or middle ear atresia, eyelid coloboma, and often respiratory compromise. It occurs with an estimated frequency of 1:50,000 live births, and the overwhelming majority of cases are caused by an autosomally inherited mutation in the TCOF1 gene that leads to underproduction of treacle protein, a neural crest precursor.
Mutations in FGFR2, FGFR3, TWIST1, and EFNB genes are commonly associated with syndromic forms of craniosynostosis. Gain-of-function mutations in the fibroblast growth factor receptors (FGFR) can lead to various syndromes that manifest craniosynostosis including: Apert syndrome (FGFR2), Pfeiffer syndrome (FGFR1 and FGFR2), Crouzon syndrome (FGFR2), Jackson–Weiss syndrome (FGFR2), Muenke syndrome (FGFR3), Crouzonodermoskeletal syndrome (FGFR3), and thanatophoric dysplasia (FGFR3). TWIST1 loss-of-function mutations can lead to another craniosynostosis syndrome—Saethre-Chotzen syndrome. EFNB1 mutations are associated with craniofrontonasal syndrome, an X-linked disorder characterized by hypertelorism, craniosynostosis, clefting of the nasal tip, and digital anomalies.
2018
Which of the following is the protein encoded by the gene mutated in van der Woude syndrome and popliteal pterygium syndrome?
A) Fibroblast growth factor 10 (FGF10)
B) Fibroblast growth factor receptor 2b (FGFR2b)
C) Interferon regulatory factor 6 (IRF6)
D) Membrane-bound signaling molecule jagged 2 (JAG2)
E) Sonic hedgehog (SHH)
The correct response is Option C.
The mechanism of palatal shelf formation must be regulated precisely so that vertical palatal shelves are adhesion-incompetent while they are in close contact with other structures, but once they are raised above the tongue, they rapidly acquire adhesion capability if they are not to remain cleft. Control of periderm differentiation by the membrane-bound signalling molecule jagged 2 (JAG2) is important in this process. Another factor central to this process is interferon regulatory factor 6 (IRF6). The gene IRF6, which has a causal association with van der Woude syndrome, is also linked strongly to the isolated form of clefting. This finding has been replicated in many different populations and ethnic groups. Variants of genes linked to syndromic forms of cleft lip with or without cleft palate that have a mendelian mode of inheritance can also produce phenocopies of non-syndromic clefts. This observation suggests that a strategy of choosing variants of genes associated with syndromic forms of cleft lip with or without cleft palate as candidates for investigations into the cause of non-syndromic clefts could be productive. Other examples of mendelian-inherited syndromes and related genes that, if mutated, could result in or modify the expression of cleft lip with or without cleft palate include Kallmann syndrome (FGFR1), ectrodactyly, ectodermal dysplasia, and clefting syndrome (TP63), X-linked clefting and ankyloglossia (TBX22), Gorlin syndrome (PTCH1), and Margarita Island ectodermal dysplasia (PVRL1[heterozygous]). Although discovery of the genetic cause of van der Woude or popliteal pterygium syndromes will have no immediate therapeutic benefit, advantages for diagnosis are instant, and this knowledge will be potentially useful in genetic counseling. If one gene mutation, which can be identified by prenatal diagnosis, causes cleft lip, cleft lip and palate, or cleft palate alone in a proportion of people, identification of individuals at high risk for having children with the same defect will be possible.
2018
An otherwise healthy 5-year-old girl has a yellow, cystic mass on the left sclera, a left preauricular branchial cleft remnant, elevation of the left oral commissure, and soft-tissue deficiency of the left face. It is most appropriate to order which of the following tests to assess for significant comorbidities?
A) Echocardiography
B) Fluorescence in situ hybridization of the branchial cleft remnant
C) Funduscopic examination
D) MRI of the brain
E) Plain x-ray studies of the hands
The correct response is Option C.
The patient described has Goldenhar syndrome, a severe form of hemifacial microsomia with variable ear anomalies, mandibular hypoplasia leading to occlusal cant and oral commissure asymmetry, and soft-tissue deficiency on the affected side. Ocular findings associated with Goldenhar syndrome are variable and common (50% incidence) and can occur as epibulbar dermoids as described in this patient as well as microphthalmia, eyelid and optic nerve colobomas (interruption of a circular structure of the eye). Colobomas can be asymptomatic (affecting the iris alone), can lead to exposure keratopathy (in the case of eyelid colobomas), or can lead to visual disturbances (optic disc/nerve coloboma), such as visual field deficits or amblyopia. Care must be taken to identify visual disturbances early in order to implement contralateral eye penalization, or patching, to maximize visual development of the affected eye. The other tests target areas that are not affected in patients with Goldenhar syndrome.
2018
A 4-year-old boy is brought to the office for evaluation of the shape of his head. Physical examination shows an asymmetrically shaped head, low frontal hairline, ptosis of the eyelids, and a prominent crus of helix. Which of the following syndromes is most likely affecting this child?
A) Apert
B) Crouzon
C) Muenke
D) Pfeiffer
E) Saethre-Chotzen
The correct response is Option E.
Saethre-Chotzen syndrome is an autosomal dominant disorder associated with TWIST1 gene mutation. It causes an asymmetrical brachycephaly, bicoronal or unicoronal synostosis, low frontal hairline, ptosis of the eyelids, and a prominent crus of helix.
Crouzon syndrome is an autosomal dominant disorder associated with an FGFR2 gene mutation. The patient with this syndrome typically comes to the office because of hydrocephalus, elevated intracranial pressure, Chiari I malformation, bicoronal synostosis and brachycephaly, exorbitism, mid-face hypoplasia, anterior open bite, and normal extremities.
Apert syndrome is an autosomal dominant disorder and shows symptoms of elevated intracranial pressure, bicoronal synostoses, turribrachycephaly, enlarged anterior fontanel, bitemporal widening, occipital flattening, anterior open bite, and complex syndactyly of the hands and feet.
Pfeiffer syndrome is also an autosomal dominant disorder associated with FGFR2 mutation and reveals symptoms of hydrocephalus and a high risk of Chiari malformation, turribrachycephaly with bicoronal synostoses, exorbitism, hypertelorism, down-slanting palpebral fissures, an anterior open bite, and broad thumbs and/or broad halluces.
Muenke syndrome is associated with the FGFR3 gene mutation and comes to the office with coronal synostosis, elevated intracranial pressure, sensorineural hearing loss, and abnormal middle phalanges.
2018
A 9-year-old boy with Crouzon syndrome is brought to the craniofacial clinic because of obstructive sleep apnea. Apnea hypopnea index is 40. He has a negative overjet of 12 mm, moderate exorbitism, and signs of increased intracranial pressure (>25 mm Hg), which was found during an intracranial pressure monitoring trial last month; intercanthal distance is normal (25 mm). Which of the following types of osteotomy is the most appropriate treatment for this patient?
A) Facial bipartition
B) Le Fort I
C) Le Fort III
D) Monobloc
E) Orbital box
The correct response is Option D.
Crouzon-related obstructive sleep apnea and increased intracranial pressure are best treated with frontofacial advancement without adjustment of the orbital width, which is best achieved using the monobloc osteotomy. Orbital box osteotomy will not treat increased intracranial pressure or sleep apnea. Le Fort III osteotomy will treat obstructive sleep apnea but will minimally affect increased intracranial pressure. Lastly, facial bipartition osteotomy is not needed in this case because of the normal intercanthal distance and lack of telorbitism. Le Fort I addresses neither the orbits nor the intracranial pressure.
2018
A 25-year-old woman comes to the office because of a 5-year history of stable facial asymmetry. Physical examination shows fullness of the right mandibular angle; no facial tenderness, masses, or lymphadenopathy is noted. Maxillofacial CT scan shows enlargement of the right masseter muscle compared with the left. Which of the following is the most appropriate first-line treatment for this problem?
A) Fabrication of a bite guard to treat bruxism
B) Injection of botulinum toxin type A into the right masseter muscle
C) Open subtotal myectomy of the right masseter muscle
D) Placement of a left mandibular angle prosthesis
E) Referral to oncology to rule out systemic amyloidosis
The correct response is Option B.
The patient described has benign or idiopathic masseter hypertrophy. The classic patient comes to the office because of aesthetic complaints but is otherwise asymptomatic. There are numerous treatments, including partial myotomy, mandibular angle reduction, and contralateral augmentation. Of all the options, the best is botulinum toxin type A injections. These injections are minimally invasive and reversible, and they do not require an anesthetic. On the basis of its low–risk profile, it is the best first-line treatment listed. Amyloidosis is a progressive systemic disease that can cause myopathy and painful bilateral masseter hypertrophy. It is unlikely in this stable, unilateral case. Bruxism can cause masseter hypertrophy, which is most often bilateral. A bite guard will prevent tooth damage, but it will not correct hypertrophy.
2018
A newborn male is evaluated because of asymmetry of the orbit and eyelid. Physical examination shows a dozen 6- to 10-mm tan macules, axillary freckles, pigmented nodules on the iris, and soft, fleshy, raised, soft-tissue lesions on the forehead and scalp. Which of the following is the most likely diagnosis?
A) Goldenhar syndrome
B) Kabuki syndrome
C) Muenke syndrome
D) Neurofibromatosis
E) Nevus sebaceous
The correct response is Option D.
The patient described meets the criteria for neurofibromatosis 1 by clinical diagnosis. Genetic testing is also possible. To make a clinical diagnosis, two or more of the following criteria are required:
Six or more café au lait spots 5 mm or larger (prepubertal) or 15 mm or larger (post-pubertal)
Family history
Two or more neurofibromas
Freckling in armpits or groin
Lisch nodules
Bony dysplasia (sphenoid wing in this case)
Tumor on optic nerve
A patient with Goldenhar syndrome has facial asymmetry, but does not have café au lait spots. Colobomas are common in patients with this syndrome, but Lisch nodules are not.
Muenke syndrome is associated with craniosynostosis. Kabuki syndrome has distinctive associated facial features with long palpebral fissures, everted lower lids, broad nasal tip, arched brows, protruding ears, intellectual disability, and often microcephaly.
Nevus sebaceous is a well-circumscribed hamartomatous lesion composed of sebaceous glands. There is a risk for malignant transformation.
2018
A 5-year-old boy is referred for evaluation of facial asymmetry. His parents report that they have noticed asymmetry since birth and believed it would improve with time, but it has not. The patient has no history of surgery or physical therapy. On physical examination, the physician notes skull asymmetry and facial asymmetry, including the orbits; there is no obvious neck tilt. A CT scan of the head is most likely to show which of the following?
A) Deformational plagiocephaly
B) Lambdoid craniosynostosis
C) Torticollis
D) Unicoronal craniosynostosis
E) Zygomaticotemporal craniosynostosis
The correct response is Option A.
Since the early 1990’s when positional deformational cranial deformities were first identified with the “back-to-sleep” campaigns, they have now become the most common etiology of cranial and facial asymmetry. Prior to that time, torticollis was the most common cause. Craniosynostosis is a much less frequent cause and occurs in the following order of decreasing frequency: unicoronal, lambdoid, zygomaticotemporal. Correct identification of most of the causes of this clinical constellation of findings can be made on clinical examination, but most would still get a CT scan to verify the diagnosis and rule out associated anomalies except for torticollis, which is always a clinical diagnosis.
2018
A 53-year-old man presents with a calvarial defect following neurosurgical extirpation of a tumor. Polymethylmethacrylate reinforced by wire mesh is used for the cranioplasty. The use of saline irrigation during the curing of the biopolymer serves which of the following purposes?
A) Dilutes toxic byproducts of polymerization
B) Dissipates thermal energy
C) Irrigates subclinical bacterial colonization
D) Provides an aqueous catalyst for polymerization
E) Reduces the dielectric constant of the substrate
The correct response is Option B.
Polymethylmethacrylate polymerization is an exergonic or exothermic reaction. The heat generated can cause injury or necrosis of the surrounding soft tissues and bone. Saline irrigation is an effective method of heat dissipation during this process. The toxic byproducts of polymerization include cyanide gas in small amounts that are dissipated by normal operating room ventilation or suction. Water is not a necessary cofactor for the polymerization process. Reduction of bacterial burden is a rationale for irrigation in general but does not play a specific role in this clinical setting. The dielectric constant of the substrate is elevated or unchanged by the irritant and this is unlikely to have an effect on the polymerization process.
2017
While performing a cranioplasty on a 6-year-old girl, the plastic surgeon accidentally drops the bone graft on the floor. Which of the following is the most appropriate next step?
A) Change the wound classification from 1 to 4
B) Decontaminate with triple antibiotic solution lavage and reuse the graft
C) Discard the graft and use an alloplastic material
D) Steam sterilize and reuse the graft
E) Wash with chlorhexidine and reuse the graft
The correct response is Option B.
In this circumstance, the surgeon should wash the graft with sterile triple antibiotic solution (0.1% gentamicin, 0.1% clindamycin, 0.05% polymyxin) and consider reusing it. This graft is not easily re-harvestable, and therefore reusing it is a reasonable alternative. Triple antibiotic solution is readily available and nontoxic to the bone graft, unlike iodine and chlorhexidine. Studies have shown that iodine does not have the antimicrobial effectiveness of other antimicrobials. Studies also show that while chlorhexidine is most effective in eradicating the microorganisms from the graft, its detrimental effect on corticocancellous bone prevents its use in this clinical scenario. If the dropped graft were skin, cartilage, or composite tissue, chlorhexidine would be the ideal antimicrobial.
Discarding the graft is not the ideal alternative given the extremely low likelihood of infection if reused after appropriate decontamination. In this clinical scenario, alloplastic materials are contraindicated due to the patient’s age. One should change the wound classification from 1 to 3, not 4. Steam sterilization is not used for such grafts in such an acute setting and this technique would potentially harm the graft.
2017
A 16-month-old male infant is brought to the physician because of congenital anomalies of both feet. The dorsal and plantar aspects are depicted in the photographs shown. Which of the following is the most likely diagnosis?
A) Apert syndrome
B) Crouzon syndrome
C) Jackson-Weiss syndrome
D) Pfeiffer syndrome
E) Saethre-Chotzen syndrome
The correct response is Option A.
Syndromic craniosynostosis often presents with findings in the hands and feet, sometimes referred to as acrocephalosyndactyly.
Apert syndrome is unique for having bilateral symmetric complex syndactylies involving nearly all digits, of both the hands and feet.
Crouzon syndrome usually has normal hands and feet.
Jackson-Weiss can have foot anomalies, such as short metatarsals.
Pfeiffer syndrome usually has broad thumbs and toes.
Saethre-Chotzen syndrome may have incomplete single syndactylies, but otherwise does not typically have extremity findings.
2017
A 2-year-old boy is referred for evaluation of an abnormal frontal prominence that his parents report has become more noticeable during the past year. A photograph is shown. He is otherwise healthy and is meeting all developmental milestones. A CT scan obtained at the request of his pediatrician shows closure of the metopic suture with ectocortical thickening; no other abnormalities are noted. Which of the following is the most appropriate next step in management?
A) Endoscopic suturectomy and postoperative helmet therapy
B) Fronto-orbital advancement
C) Spring-mediated frontal distraction
D) Total calvarial remodeling
E) Observation
The correct response is Option E.
This patient has a metopic ridge and would not be correctly classified as having the phenotype associated with pathologic metopic closure—trigonocephaly. Consequently, observation is the only correct answer. Thickening of the metopic suture is a normal variant and should not be interpreted as abnormal unless it is accompanied by frontal narrowing and retrusion of the superior-lateral orbital rims. These findings are not present in this patient.
The metopic suture closes normally within the first year of life, so the presence of a fused metopic suture on CT scan in a child this age is not necessarily abnormal. The degree of frontal narrowing required to classify a patient as having pathologic cranial shape is a matter of much debate and is not settled. Some authors point to the importance of additional clinical (hypotelorism, biparietal widening) or radiographic (endocortical thickening or omega sign on CT) findings to secure the diagnosis of metopic craniosynostosis.
The other responses are surgical interventions and should be invoked only in the context of pathologic metopic closure and resultant trigonocephaly. Endoscopic suturectomy and postoperative helmet therapy, spring-mediated frontal distraction, and fronto-orbital advancement are all viable options to correct the frontal narrowing associated with trigonocephaly. Total calvarial remodeling is rarely if ever required to correct trigonocephaly.
2017
A newborn male with a Tessier No. 3 orofacial cleft is evaluated in the NICU. Which of the following locations is the most common pathway of this cleft through the alveolar ridge?
A) Between the canine and premolar
B) Between the central and lateral incisors
C) Between the central incisors
D) Between the lateral incisor and canine
E) Between the premolar and first molar
The correct response is Option D.
Tessier No. 3 orofacial clefts are the most common type. When they affect the alveolus, they typically traverse between the lateral incisor and the canine and extend into the floor of the nose and through the nasolacrimal system and orbital floor, involving the medial canthal region.
The other options are all incorrect, because they are not typically the route seen in the Tessier No. 3 orofacial cleft.
2017
The congenital anomaly shown in the photograph is thought to be caused by which of the following?
A) Failure of fusion of the lateral and maxillary nasal processes
B) Failure of fusion of the maxillary prominence with the medial nasal prominence
C) Failure of fusion of the medial nasal prominence and the lateral nasal prominence
D) Failure of fusion of the medial nasal prominences
E) Failure of the oronasal membrane to rupture
The correct response is Option A.
Proboscis lateralis, which is illustrated in the photograph, is thought to be a failure of fusion between the lateral and maxillary nasal processes. A cleft lip is the result of a failure of fusion of the maxillary prominence with the medial nasal prominence. A midline cleft or Tessier Zero cleft is a result of the failure of fusion of the medial nasal prominences. Choanal atresia is a result of a failure of the oronasal membrane to rupture. Finally, a mandibular cleft or Tessier # 30 cleft is a result of the failure of fusion of the mandibular prominences.
2017
A 12-year-old boy is evaluated for a vertical furrow near the midline of his face from the hairline to the eyebrows. Each of the listed clinical findings can be seen in hemifacial atrophy EXCEPT:
A) Atrophy of the tongue
B) Change in facial sensation
C) Malar hypoplasia
D) Malocclusion
E) Mandible hypoplasia
The correct response is Option B.
The relationship between morphea en coup de sabre and Parry-Romberg syndrome is unclear but there is some overlap. Morphea is characterized by the vertical furrow, atrophy of the tongue and upper lip, absent or flattened zygoma, orbital rim, and a hypoplastic maxilla and mandible on the affected side. A lateral open bite may be seen due to the maxillary and mandibular hypoplasia. Sensation, function of muscles of facial expression, and mastication are normal.
2017
A 20-year-old woman comes to the office to discuss reconstruction for hemifacial atrophy. A photograph is shown. The atrophy began when she was 13 years old and stabilized by 16 years of age. Workup suggests mixed connective tissue etiology that falls within the lupus spectrum. Which of the following is the most appropriate intervention to correct this patient’s deformity?
A) Buried anterolateral thigh free flap
B) Custom silicone prosthesis
C) Gracilis free flap
D) Injectable poly-L-lactic acid
E) Pedicled pectoralis major flap
The correct response is Option A.
Facial contour deformities can result from a variety of causes, can be unilateral or bilateral, and may range in severity. The most common cause is Romberg disease, progressive hemifacial atrophy. The cause is unknown but may be a localized form of scleroderma. Systemic lupus erythematosus and scleroderma are the most common connective tissue disorders resulting in soft-tissue atrophy with facial involvement.
Systemic lupus erythematosus is an inflammatory connective tissue disorder of unknown cause that predominantly affects women (90%). The clinical course can be variable and involve almost all organ systems. Cutaneous manifestations include soft-tissue atrophy, telangiectasia, and extremity ulcerations. Scleroderma refers to a spectrum of disorders characterized by diffuse fibrosis of the skin, blood vessels, synovia, and vital organs, such as the kidneys. Women are affected four times more frequently than men and the skin is involved in 95% of cases. The pathogenesis is unclear but may include vascular abnormalities (vasculitis), excess collagen deposition, and excess proteoglycan production in the involved tissues.
Surgical options for correction of hemifacial atrophy include alloplastic implants, free dermis/fat grafts, fat injections, and fasciocutaneous free tissue flaps. For mild defects, a custom alloplastic implant composed of silicone or porous polyethylene may be acceptable, but risks such as skin breakdown with implant exposure, scar contracture, and poor long-term patient satisfaction make an alloplastic option less desirable. In the patient described, the large nature of the defect and thin nature of her skin make an alloplastic option a poor choice.
Fat grafting using the techniques described by Coleman is a viable option for smaller defects. The large defect and need for multiple cycles of fat grafting make this a less desirable option in this patient. Various free flaps including omentum, parascapular, groin, and superficial inferior epigastric artery flaps have been described for correction of hemifacial atrophy. In this case, the anterolateral thigh flap is the most appropriate choice because it allows for harvest of a large amount of tissue, including skin, fat, fascia, and muscle. A postoperative photograph is shown.
2016
A 3-month-old male infant is evaluated because of bilateral preauricular pits and small ears. Physical examination is otherwise unremarkable. The patient failed the newborn hearing test; the parents have not repeated the test. They are not very concerned, because the father is also hearing impaired. Which of the following is the most appropriate next step in management?
A) Echocardiography
B) MRI of the brain
C) Renal ultrasound
D) Repeat hearing test
E) Surgical treatment of the preauricular pits
The correct response is Option C.
This child most likely has branchio-oto-renal (BOR) syndrome, an autosomal dominant syndrome. Two genetic mutations (EYA1 and SIX1) have been identified. The clinical findings include auricular malformations, preauricular skin pits, hearing loss, branchial fistulae, external auditory canal stenosis, and renal anomalies. Renal ultrasound should be performed to rule out renal anomalies. Family history of hearing loss should also raise suspicion.
Ear anomalies can also be associated with the oculo-auriculo-vertebral spectrum (OAV), within which hemifacial microsomia falls. OAV spectrum may have associated mandibular, facial nerve, and ocular findings (e.g., epibulbar dermoid, coloboma). Other possible associations include congenital heart defects, such as ventricular septal defect or tetralogy of Fallot. This child does not have other craniofacial findings of hemifacial microsomia, thus cardiac echocardiography is not indicated.
Internal cerebral arterial anomalies may be associated with PHACE syndrome (P, posterior fossa; H, hemangioma; A, arterial anomalies; C, cardiac defects; E, eye anomalies). Investigation of cerebral circulation by MRI of the brain would be prompted by a facial hemangioma, which is absent in this child.
While resection of the preauricular pits may be offered, it does not aid in ruling out other findings and there is no urgency to perform surgical resections in this child at 3 months of age.
Repeating a hearing test will not confirm or rule out OAV or BOR syndrome.
2016
A 12-hour-old male newborn is evaluated in the neonatal intensive care unit. A diagnosis of CHARGE syndrome is suspected. Review of the medical record and physical examination show congenital heart defect, eyelid colobomas, microtia, hypogonadism, and growth retardation. Which of the following additional conditions is/are most likely in this patient?
A) Craniosynostosis
B) Intrahepatic hemangiomas
C) Lower lip pits
D) Orofacial cleft
E) Syndactyly
The correct response is Option D.
Cleft lip and/or palate is found in up to 20% of patients with 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. It is the second most common syndrome associated with cleft lip and palate, following van der Woude syndrome. CHARGE syndrome is believed to be caused by a microdeletion or mutation in the CHD7 (chromodomain helicase DNA-binding protein 7) gene. Over the years, there have been other conditions found to be associated with this syndrome, including limb anomalies, renal anomalies, omphalocele, cranial nerve anomalies, and tracheoesophageal fistula.
Syndactyly is not typically associated with CHARGE syndrome.
Intrahepatic hemangiomas are not typically associated with CHARGE syndrome.
Craniosynostosis is not typically associated with CHARGE syndrome.
Lip pits are commonly found in patients with van der Woude syndrome.
2016
A 6-year-old girl with 22q11.2 deletion syndrome is brought to the office by her parents. The parents report trouble understanding the child when she speaks. An incompetent velopharyngeal port is suspected. Which of the following is the most likely indication of this malfunction?
A) Consonant omission
B) Glottal stop
C) Hyponasality
D) Nasal air emission
E) Sibilant lateralization
The correct response is Option D.
Nasal air emission, along with hypernasality and facial grimacing, are all findings that are commonly observed in patients with an incompetent velopharyngeal port or velopharyngeal dysfunction (VPD). Consonant omissions and glottal stops are two common pathologic compensatory speech patterns that such patients exhibit but are not directly caused by VPD. Instead, they are maladaptive compensatory speech patterns often present in patients with VPD. Although some patients with VPD can have hyponasality or sibilant lateralization, these are unrelated to VPD or an attempt to compensate for VPD.
2016
A 3-month-old female infant is brought to the office for evaluation of head shape. Examination shows brachycephaly and abnormal orbits. Genetic testing is negative for fibroblast growth factor receptor (FGFR) mutation. Which of the following is the most likely diagnosis?
A) Antley-Bixler syndrome
B) Apert syndrome
C) Crouzon syndrome
D) Pfeiffer syndrome
E) Saethre-Chotzen syndrome
The correct response is Option E.
Only Saethre-Chotzen syndrome is not associated with a fibroblast growth factor receptor (FGFR) mutation, but it is instead associated with a mutation of the TWIST gene. It is characterized by brachycephaly with maxillary hypoplasia, a prominent ear crus, and syndactyly. Pfeiffer syndrome (characterized by brachycephaly, mild syndactyly, and broad toes and thumbs) is associated with mutations of both FGFR1 and FGFR2. Apert syndrome (characterized by brachycephaly, syndactyly, and cognitive delay) is autosomal dominant and associated with mutations of FGFR2. Crouzon syndrome is also autosomal dominant and characterized by shallow orbits, craniosynostosis, and maxillary hypoplasia. Antley-Bixler syndrome has four phenotypes, some of which are associated with FGFR mutations and characterized by craniosynostosis, choanal atresia, and radiohumeral synostosis.
2016
A 3-month-old male infant is brought to the office by his parents for evaluation of skull asymmetry that has worsened since birth. Birth history includes prolonged labor that required cesarean delivery. Physical examination shows flattening of the right posterior occiput with ipsilateral forehead bossing. From a superior view, the right ear is 1 cm more anterior than the left ear, and the anterior fontanelle is open without any bulging. The child’s head tilts to the right and has decreased range of motion when looking to the left. The left side of his neck feels tighter and more rigid compared with the right side. Which of the following is the most appropriate initial management of this child?
A) Cerebral palsy evaluation
B) Occupational therapy of the neck
C) Posterior cranial vault expansion
D) Passive molding helmet therapy
E) Sternocleidomastoid muscle release
The correct response is Option B.
This child demonstrates the classic presentation of deformation plagiocephaly with his posterior occiput flattening and compensatory ipsilateral forehead bossing with anterior shifting of his ear on the same side. There are many reasons for deformational plagiocephaly, especially with the current practice of “back to sleep.” Treatment of this focuses on removing the pressure on the affected side. His head tilt and decreased motion are consistent with torticollis. Initial treatment is stretching and occupational therapy to restore usage and balance of his neck muscles. Although helmet therapy can help alleviate pressure on this side, it is not addressing the issue. Further studies have demonstrated that deformational plagiocephaly can be treated with positional changes and behavior modification up until 7 to 8 months of age without difference in head asymmetry compared with those children who began helmet therapy at a younger age. There is no difference in children who fail positional changes compared with those who initiate helmet therapy immediately. At this child’s age of 3 months and with obvious torticollis, the most appropriate initial therapy should be focused on resolving his torticollis and giving him a trial of non-helmet therapy.
2016
A 3-year-old girl with craniofrontonasal dysplasia presents to the craniofacial team because of moderate exorbitism, severe central sleep apnea, and severe hypertelorism (interocular distance of 40 mm). Which of the following is the most appropriate management plan for this patient?
A) Continuous positive airway pressure until 6 or 8 years of age
B) Facial bipartition surgery within the next year
C) Immediate tracheostomy and assisted ventilation
D) Monobloc advancement surgery within the next year
E) Orbital box osteotomy surgery within the next year
The correct response is Option C.
Tracheostomy and assisted ventilation is the most appropriate management. The patient described demonstrates a significant number of central and mixed apneas, indicating that the initiation of breathing by central drive is diminished and that tracheostomy with assisted ventilation set at a base ventilation rate, such as synchronized intermittent mandatory ventilation (SIMV), would be optimal to ensure adequate minute ventilation.
Continuous positive airway pressure (CPAP) until 6 to 8 years of age and then a facial advancement is incorrect. CPAP will assist with obstructive apnea, but will not treat central apnea because no baseline ventilation rate is set using CPAP mode.
Hypertelorism surgery within the next year is incorrect because hypertelorism surgery will not treat sleep apnea without facial advancement. Only the wide orbit position would be treated with an orbital box osteotomy or facial bipartition without advancement.
Facial advancement surgery within the next year is incorrect because advancement will correct the obstructive apnea and a portion of the mixed apneas, but will not address the central sleep apnea. Observation with tracheotomy and assisted ventilation will be more prudent until the central apnea rate improves, usually after time with maturation. The patient described will still have persistent central apnea and is at higher risk for relapse of the face due to the age of under 6 years.
2016
Which of the following arteries is most likely to be injured in a patient undergoing Le Fort I osteotomy?
A) Descending palatine
B) External carotid
C) Greater palatine
D) Internal carotid
E) Internal maxillary
The correct response is Option A.
Descending palatine artery is the correct response since it is at greatest risk after pterygoid osteotomy and down fracture. It is easily visible after down fracture and mobilization of the Le Fort I segment. It is typically injured during osteotomy prior to its division into the greater and lesser palatine arteries.
External carotid artery is incorrect because it is within the neck. Its branches ascend in the face and end in the sphenopalatine artery as it enters the pterygoid foramen.
Internal maxillary artery is incorrect because it is the larger artery prior to division into multiple smaller branches including the middle meningeal, sphenopalatine, and descending palatine arteries.
Greater palatine artery is incorrect because the greater and lesser palatine arteries are below the level of the pterygoid osteotomy. The descending palatine is more proximal and is at greater risk for injury.
2016
A 6-month-old male infant is evaluated for facial asymmetry noted at birth. Physical examination shows symmetry of the upper one-third of the face, but the right cheek is less prominent than the left. The occlusal plane is canted upward to the right, and the chin point is deviated to the right. In addition, the right ear is small and constricted, and an adjacent preauricular soft-tissue appendage is noted. He has a palsy of the right marginal mandibular nerve. He is otherwise healthy. The parents should be informed that the asymmetry was most likely caused by which of the following?
A) Autosomal dominant mutation
B) Disruption of normal developmental sequence
c) Maternal smoking
D) Omega oil ingestion during pregnancy
E) Uterine deformation
The correct response is Option B.
This patient has hemifacial microsomia (also referred to as craniofacial microsomia, Goldenhar syndrome, or oculoauriculovertebral spectrum), the second most common congenital facial malformation after cleft lip/palate. It is estimated to occur in 1:5600 to 1:20,000 live births. Unilateral (or less commonly, bilateral) facial hypoplasia is the primary manifestation, and it can involve ocular structures (orbital size, position, globe development, coloboma, epibulbar dermoids), mandibular structures, auricular structures (preauricular tags and sinuses, microtia or anotia, hearing loss), cranial nerve palsies (cranial facial nerve [VII] is most common); and soft-tissue underdevelopment (including facial clefts). In addition, patients can have cardiac, musculoskeletal, central nervous system, and renal manifestations.
The etiology of hemifacial microsomia (HFM) appears to be heterogeneous. Early investigators using animal models of the condition believed that this was the result of an isolated vascular event in the stapedial artery. While this mechanism cannot be completely dismissed and may have a role in some cases, the prevalence of extracranial findings strongly suggests a more sublime pathogenesis: faulty neural crest cell (NCC) migration. Both genetic and environmental factors have been demonstrated to alter or impair NCC activity. Recent studies have implicated genetic factors in the development of this disorder. Nevertheless, the majority of patients with HFM have no family history and less than 2% of cases arise from autosomal dominant inheritance. Certain vasoactive and nonsteroidal anti-inflammatory drug (NSAID) medications can increase the risk of HFM; maternal ingestion of omega oils has not been associated. Maternal smoking can increase the risk of having a child with HFM, but the association is weak and this is not causative in the vast majority of patients. Uterine deformation can lead to facial asymmetry; however, this typically improves with growth and does not lead to the ear and jaw anomalies in the patient described.
2016
A 30-year-old primigravid woman is referred to the office because ultrasonography showed polyhydramnios at 22 weeks’ gestation. Additionally, the fetus was observed to have macrosomia, omphalocele, macroglossia, and microtia. There is no evidence of nephromegaly or hepatomegaly. A groove between the lobule and antitragus is noted. Chromosomal analysis indicates rearrangements on chromosome 11p15. Which of the following is the most likely diagnosis?
A) Beckwith-Wiedemann syndrome
B) Binder syndrome
C) Diabetic fetopathy
D) Down syndrome
E) van der Woude syndrome
The correct response is Option A.
This is a rare overgrowth disorder involving genetic defect of chromosome 11, commonly characterized by the presence of macrosomia, omphalocele, and macroglossia. These symptoms typically present after 22 weeks’ gestation. Additionally, infants with Beckwith-Wiedemann syndrome often display auricular abnormalities, including characteristic ear folds.
While a common symptom of diabetic fetopathy is macrosomia, a diagnosis of diabetic fetopathy would be incorrect. Common symptoms of diabetic fetopathy include congenital anomalies of the internal organs, such as nephromegaly or hepatomegaly; no such symptoms are detected in this fetus.
The absence of cleft lip and/or cleft palate nephromegaly also precludes the diagnosis of van der Woude syndrome. Additionally, the genetic abnormality responsible for van der Woude syndrome involves chromosome 1, not chromosome 11. Likewise, trisomy 21 (Down syndrome) is not the correct diagnosis, as the chromosomal abnormality responsible for this disease involves chromosome 21, not chromosome 11.
Finally, Binder syndrome is a congenital facial malformation most commonly characterized by a flat nose and retrusion of the midface, neither of which are observed in this fetus. Therefore, Beckwith-Wiedemann syndrome is the correct answer.
2016
A 10-month-old male infant has undergone a cranial vault remodeling for sagittal synostosis. The child has no other comorbidities. On the second postoperative day, the patient’s serum sodium concentration decreases from 140 to 129 mEq/L. Laboratory studies show a suppressed plasma aldosterone concentration. The suspected diagnosis is cerebral salt wasting (CSW). An increase in which of the following is most likely to support this diagnosis?
A) Plasma antidiuretic hormone concentration
B) Plasma sodium concentration
C) Plasma volume
D) Serum uric acid concentration
E) Urine output
The correct response is Option E.
Cerebral salt wasting (CSW) is a condition that combines renal sodium and fluid loss after intracranial injury with an overall negative sodium balance and volume contraction. It responds to fluid and salt replacement. It contrasts with the syndrome of inappropriate antidiuretic hormone (SIADH), which is part of the differential diagnosis in hyponatremia as follows:
2016
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?
A) Brachycephaly
B) Kleeblattschädel deformity
C) Posterior plagiocephaly
D) Scaphocephaly
E) Trigonocephaly
The correct response is Option B.
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.
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
The correct response is Option C.
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.
2015
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?
A) FGFR2
B) IRF6
C) MSX1
D) SHH
E) TGF-beta
The correct response is Option B.
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.
2015
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
The correct response is Option E.
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.
Which of the following congenital clefts involves the lower eyelid?
A) 0
B) 1
C) 5
D) 8
E) 9
The correct response is Option C.
(Please note that this pictorial appears in color in the online examination)
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.
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?
A) 2 weeks
B) 8 months
C) 3 years
D) 10 years
E) 22 years
The correct response is Option B.
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.
2015
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
The correct response is Option C.
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.
2015
A 28-year-old man is evaluated because of the facial deformity shown in the photograph. 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
The correct response is Option D.
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.
2014
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?
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
The correct response is Option E.
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.
2014
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?
A) Bilateral fronto-orbital advancement
B) Endoscopic craniotomy and helmet therapy
C) Monobloc distraction
D) Spring-mediated cranioplasty
E) Total vault reconstruction
The correct response is Option E.
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.
2014
A 15-year-old girl with a history of facial asymmetry reports worsening of her deformity in the past 3 years. It has slowly progressed with upper lip and cheek atrophy, mid-face hyperpigmentation, nasal deviation, and worsening occlusal cant. Photographs are shown. The patient reports migraine but denies any other medical problems. Which of the following is the most likely diagnosis?
A) Fibrous dysplasia
B) Goldenhar syndrome
C) Neurofibromatosis
D) Parry-Romberg syndrome
E) Systemic scleroderma
The correct response is Option D.
Parry-Romberg syndrome is a rare craniofacial disease characterized by slow progressive hemifacial atrophy of the skin, subcutaneous tissue, and, in severe cases, bony structures, following ipsilateral branches of the trigeminal (V) nerve. It usually occurs in the first two decades of life, and it is more prevalent in females. It is frequently associated with neurologic and ophthalmologic involvement. The severity of deformity varies depending on the age of onset of disease, being more severe the earlier it starts.
2022
A 3-month-old infant presents with flattening of the left forehead, and asymmetry of the orbits and face. He has early evidence of right-sided astigmatism and ocular torticollis. A CT scan is shown. The parents are considering two options: endoscopic suturectomy and helmet therapy at age 3 months or fronto-orbital advancement (FOA) at age 9 months. Compared with endoscopic suturectomy and helmet therapy, FOA is more likely to result in which of the following surgical outcomes?
A) Greater need for revision
B) Greater postoperative facial symmetry
C) Less operative morbidity
D) Lower overall cost
E) More severe strabismus
The correct response is Option E.
Surgical intervention is recommended for most patients with craniosynostosis due to the variable risk for increased intracranial pressure (ICP), localized cerebral compression, and developmental delay. Traditional treatment techniques such as fronto-orbital advancement (FOA) and total cranial vault remodeling are still widely used, but minimally invasive options such as endoscopic suturectomy and postoperative helmet therapy (ES + HT), spring-mediated distraction, and conventional distraction have become more commonplace. While each technique has its ardent supporters, there is a growing number of studies that compare the clinical outcomes of each technique. ES + HT is most effective when performed under 4 months of age because the correction depends solely on cranial expansion, while spring-mediated distraction is typically done in older infants (4 to 8 months of age). Cranial remodeling has no strict age limit, but many surgeons defer treatment until 7 to 10 months to decrease the risk associated with anesthesia and recurrence of the malformation. Despite these concerns, there are some data that support early cranial expansion (<6 months of age) to optimize neurocognitive outcomes. Compared with FOA, endoscopic and spring-mediated distraction techniques are less costly, less morbid, and have similar revision.
The patient has left unilateral coronal craniosynostosis (UCS), which manifests as ipsilateral forehead and brow retrusion and shortening of the ipsilateral hemi-cranium, with orbital and facial asymmetry. Open cranial vault procedures do not directly correct the facial symmetry and at least two investigations show better facial asymmetry is achieved with early, minimally invasive approaches. The orbital asymmetry results in strabismus (contralateral head tilting termed ocular torticollis) and contralateral astigmatism in the majority of patients. Several studies confirm significantly better ophthalmologic outcomes following early endoscopic suturectomy for UCS versus FOA performed at an older age.
2022
A 4-month-old infant is evaluated because of a lesion near the lateral aspect of the left eyebrow. A photograph is shown. The mass is firm, well-circumscribed, and does not move with overlying skin movement. Which of the following preoperative imaging studies is most appropriate?
A) CT scan
B) MRI
C) Ultrasonography
D) X-ray studies
E) Imaging studies are not necessary
The correct response is Option E.
Dermoid cysts of the craniofacial region represent about 7% of all dermoid cysts and have an incidence of around 1 in 1000 live births. These masses can arise in multiple anatomic locations on the head, including the lateral eyebrow (sometimes referred to as an angular dermoid), midline nose, glabella, medial canthus, temporal or occipital scalp, frontal/anterior fontanel, and postauricular sulcus. Intracranial extension occurs in midline nasal dermoid cysts (13% below and 0% above the nasofrontal suture), frontal/fontanel (36.8%), temporal (16.2%), and occiput (16.3%), while this almost never occurs in the remaining locations (lateral brow, parietal, medial canthus, auricular). Cysts of the lateral brow represent almost two-thirds of all craniofacial dermoid cysts, and intracranially, extension or contact with the dura does not occur. Thus, the diagnosis is clinical, and further imaging in a child this young is not warranted. Overland et al. advocate imaging (CT or MRI) in older patients (>2 years of age) due to an increased risk for orbital extension with growth.
2022
A 3-month-old male infant presents with left occipital flattening and associated external ear and facial asymmetry. Significant head tilt and limited range of motion with neck rotation are noted on physical examination. A photograph is shown. Which of the following muscles is most likely contributing to the patient’s plagiocephaly?
A) Digastric
B) Platysma
C) Splenius cervicis
D) Sternocleidomastoid
E) Trapezius
The correct response is Option D.
Congenital muscular torticollis occurs as a result of sternocleidomastoid shortening, presenting as head tilt and limited range of motion with neck rotation. The inability to rotate the neck increases the time spent in the preferred position and contributes to deformational plagiocephaly. The digastric muscle acts to elevate the hyoid, while the platysma is involved in facial expression. The splenius cervicis extends the spinal column, and the trapezius functions to maintain posture and stabilize the scapula.
2022
A 5-year-old boy has an interrupted aortic arch, low-set ears, broad nasal bridge, velopharyngeal insufficiency, and hypoparathyroidism. A photograph is shown. Which of the following additional findings are most likely in this patient?
A) Facial asymmetry, microtia
B) High myopia, retinal detachment
C) Lower eyelid coloboma, downward-slanting palpebral fissures
D) Lower lip pits, salivary mucous drainage
E) T-cell immunodeficiency, chronic otitis media
The correct response is Option E.
22q11.2 Deletion syndrome (also known as DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes) is often identified with help of the “CATCH 22” mnemonic, which refers to its characteristics of cleft palate, abnormal facies, thymic hypoplasia, cardiac malformations, and hypoparathyroidism. T-cell immunodeficiency and recurrent otitis media infections occur secondary to thymic hypoplasia and cleft-related ear anomalies.
Van der Woude syndrome is characterized by cleft palate and/or cleft lip, and lower lip pits/fistulae. Abnormal salivary gland morphology and hypodontia may also occur.
Treacher Collins syndrome (mandibulofacial dysostosis) is characterized by malar and mandibular hypoplasia, down-slanting palpebral fissures, lower eyelid coloboma, and ear anomalies.
Stickler syndrome type 1 is characterized by cleft palate, facies such as mid-face hypoplasia/retrusion, myopia with increased risk for retinal detachment, sensorineural hearing loss, and joint abnormalities including hypermobility and early-onset osteoarthritis.
Hemifacial microsomia is characterized by small and/or flattened maxillary, temporal, and zygomatic bones. Facial asymmetry is further apparent upon animation when soft tissue and nerve hypoplasia occur. Oral clefts and ear anomalies are commonly involved, as well as underdevelopment of the orbits.
Van der Woude syndrome, Treacher Collins syndrome, Stickler syndrome, and hemifacial microsomia are all unrelated to hypoparathyroidism.
2022
The ear anomaly depicted in the photograph shown is most commonly found in patients with which of the following syndromes?
A) Apert
B) Klippel-Trenaunay
C) Stickler
D) Treacher Collins
E) Van der Woude
The correct response is Option D.
The photograph depicts a patient with lobular type microtia and represents failure of formation of the pinna of the ear. Patients commonly have stenosis or absence of the external auditory canal, and in cases of lobular type microtia, exhibit a microtic remnant composed of malformed cartilage and fibrofatty tissue that is reminiscent of the ear lobule. This condition may be seen in isolation but is commonly seen in cases of hemifacial microsomia and Treacher Collins syndrome. Treacher Collins syndrome, or mandibulofacial dysostosis, exhibits a broad phenotypic spectrum and is commonly seen with hypoplasia or absence of the zygoma, coloboma of the lower eyelid, lateral canthal dystopia, absence of the medial lower eyelid lashes, mandibular hypoplasia with a steep occlusal plane, and abnormalities of the external ear, including microtia.
Apert syndrome results from FGFR2 mutations Ser252Trp or Pro253Arg and results in multisuture craniosynostosis, mid-face hypoplasia, complex syndactyly, cystic acne, and other less common findings. It is transmitted as an autosomal dominant condition.
Stickler syndrome is inherited in autosomal dominant and recessive patterns. It results from mutations in collagen genes COL2A1, COL11A1, and COL11A2. This may manifest with ocular abnormalities including early-onset cataracts, vitreous anomalies, retinal detachments, and severe myopia. Patients may have sensorineural hearing loss. Mandibular hypoplasia and Pierre Robin sequence is common in these patients.
Van der Woude syndrome results from a mutation of the IRF6 gene and is a common autosomal dominant condition associated with cleft lip and palate. Patients characteristically exhibit lower lip pits.
Finally, Klippel-Trenaunay syndrome is a congenital capillary-lymphatic-venous malformation of the lower extremity with associated soft tissue and bony overgrowth. This condition is caused by a somatic mutation in the PIK3CA gene and is therefore on the phenotypic spectrum with CLOVES syndrome and other PIK3CA-related overgrowth syndromes (PROS).
2022
An 18-month-old female infant is evaluated because of oral asymmetry. A photograph is shown. This patient’s oral soft-tissue deficiency is best classified as which of the following Tessier cleft types?
A) No. 4
B) No. 5
C) No. 6
D) No. 7
E) No. 8
The correct response is Option D.
The Tessier classification provides a useful framework for defining rare soft tissue (shown in the illustration) and bony clefts of the face and craniofacial skeleton. Of these rare clefts, the Tessier No. 7 cleft is one of the more common and is often associated with craniofacial microsomia. Embryologically, it arises from failed fusion of the mandibular and maxillary prominences of the first branchial arch. The resultant soft-tissue defect can be quite variable, ranging from a subtle disruption of the oral commissure to a large open facial cleft extending from the oral cavity, across the cheek, and into the temporal region. Repair of the defect shown requires a multi-layered repair of the intraoral and commissure mucosa, all of the affected perioral musculature (especially the separated orbicularis oris muscle to establish oral continence), and the skin. Tessier No. 4 and No. 5 clefts extend from the upper lip to the lower eyelid, while the Tessier No. 6 cleft extends from the lateral lower eyelid into the ipsilateral cheek. Tessier No. 8 is a transverse cleft arising from the lateral canthal region.
2023
An otherwise healthy 21-month-old female infant is evaluated because of an insidious and progressive decline in head circumference percentile that began at age 6 months. Family history is significant for Crouzon syndrome. A head circumference chart and CT scan are shown. Which of the following best describes the findings on the CT scan?
A) Cloverleaf skull
B) Frontal lobe hypoplasia
C) Normal cranial shape
D) Patent cranial sutures
E) Turribrachycephaly
The correct response is Option C.
This patient has progressive postnatal pansynostosis (PPP), a relatively rare but important form of craniosynostosis that typically occurs in the first year of life. Unlike most other forms of craniosynostosis, affected patients have a normal head shape (often leading to a delay in diagnosis) and a slow unrelenting decline in head circumference percentile. This condition can occur in any child, but it is more common in patients with certain craniosynostosissyndromes, including but not limited to Crouzon syndrome. Because the sutures do not begin to fuse until after birth, the cranial shape typically remains normal (albeit smaller) and many of the common facial features seen with an associated craniosynostosis syndrome (eg, midfacial retrusion, exorbitism) may evolve in a delayed fashion once the sutures begin to close. The risk for intracranial pressure is quite high, greater than 75%, and cranial vault expansion is almost universally required. The age of onset of suture fusion correlates with the sudden decline in head circumference percentile, at age 6 to 8 months for this patient.
Patent cranial sutures would not adversely impact cranial growth unless there was a massive and acute cerebral event, which would impact the patient’s development. Unlike PPP, cloverleaf skull occurs as a result of prenatal multi-suture fusion and is clearly evident at birth. Frontal lobe atrophy can result in a small head, but the head circumference percentile typically stays consistent with growth. Turribrachycephaly results from prenatal fusion of both coronal sutures and, while often seen in patients with Crouzon syndrome, it would be clinically obvious at or around birth and would not typically result in a sudden decline in head circumference percentile as observed in this scenario.
2023
An 18-year-old man comes to the emergency department because of a severe headache. He reports onset of sinonasal congestion, nasal discharge, and cough 6 weeks ago. During the past week, he also noted an impaired sense of smell, foul-tasting postnasal discharge, and an enlarging, painful mass on the left forehead. CT scan of the head shows opacification of the maxillary, ethmoid, sphenoid, and frontal sinuses. Additional findings can be observed in the representative CT scans shown. Which of the following is the most appropriate treatment?
A) Caldwell-Luc approach sinus drainage
B) Endoscopic sinus drainage and open cranialization
C) Incision and drainage of the left forehead mass
D) Long-term, narrow-spectrum antibiotic therapy for 6 weeks
The correct response is Option B.
The patient has developed a Pott puffy tumor in the setting of severe pansinusitis. Pott puffy tumor is not a true tumor, but rather osteomyelitis of the frontal bone with associated subperiosteal abscess resulting in forehead swelling. In addition to compromise of the outer table of the frontal sinus, the CT scan demonstrates inner table bone compromise with associated intracranial abscess. The most complete approach to treating this patient includes: 1) source control with drainage of all involved sinuses, including the frontal sinus; 2) drainage of the intracranial abscess with craniotomy; and 3) separation of the sinonasal cavity and the intracranial space with cranialization. Postoperative adjunctive therapy will likely include long term broad-spectrum antibiotic therapy since a mixed polymicrobial infection is most common. Isolated sinus drainage or sinus drainage and obliteration would not achieve the necessary goals to resolve the acute infection and avoid recurrence.
2023
