Craniofacial Flashcards
(94 cards)
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 The injection of free silicone is not recommended and has been replaced by the use of autologous fat and other injectable substances.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.
2018
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 - proboscis lateralis?
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.
A gracilis free flap is a great option for facial reanimation, but it would not have enough size and bulk to correct this patient’s deformity. Similarly, a pectoralis major flap would not be acceptable due to lack of bulk and inability to position the flap without tethering because of the pedicle. Additionally, it would be difficult to transpose the muscle high enough for full correction and an unaesthetic bulge would be notable in the neck.
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
