(A) Bilateral coronal
(B) Lambdoid
(C) Metopic
(D) Sagittal
(E) Unilateral coronal

The correct response is Option D.

Scaphocephaly is just one form of craniosynostosis, or varying deformities of the cranial vault resulting from restrictions in development. Detectable craniosynostotic abnormalities occur in one of approximately 1800 neonates. The coronal, lambdoid, metopic, and sagittal sutures are primarily involved; minor sutures can include the frontonasal, frontosphenoidal, and temporosquamosal. Mental retardation is often seen in patients with multiple synostotic sutures; this occurs as a result of prolonged restriction of brain growth and cranial vault development secondary to fusion of the overlying sutures.

Scaphocephaly is associated with synostosis of the sagittal suture. Affected patients have an elongated, narrow cranial vault. In contrast, patients with bilateral coronal synostosis have brachycephaly, in which the frontal portion of the skull is wide and flat and the cranium is shortened anteroposteriorly. Lambdoid suture synostosis is also known as occipital or posterior plagiocephaly. This condition, characterized by an oblique posterior flattening, is rarely seen congenitally and more often results from childbirth or prolonged head positioning, such as during sleep. Infants with metopic suture synostosis, or trigonocephaly, have a triangularly shaped forehead with decreased bitemporal distance. Unilateral coronal synostosis, or frontal plagiocephaly, involves oblique frontal flattening of the skull.

References
1. Bartlett SP, Mackay GJ. Craniosynostosis syndromes. In: Aston SJ, Beasley RW, Thorne CH, eds. Grabb & Smith's Plastic Surgery. 5th ed. Philadelphia, Pa: Lippincott-Raven; 1997:295-304.
2. Stratoudakis AC. Craniofacial anomalies and principles of their correction. In: Georgiade GS, Riefkohl R, Levin LS, eds. Textbook of Plastic, Maxillofacial and Reconstructive Surgery. 3rd ed. Baltimore, Md: Williams & Wilkins; 1992:273-296.

PHOTO

The photograph above is of an 11-year-old girl who is undergoing evaluation because of the appearance of her nose. Examination shows a short, flattened nasal bridge and midface hypoplasia. The anterior nasal spine is absent on radiographs. Which of the following is the most likely diagnosis?

(A) Binder's syndrome
(B) Goldenhar's syndrome
(C) Nager's syndrome
(D) Treacher Collins syndrome
(E) Velocardiofacial syndrome

The correct response is Option A.

This 11-year-old girl has Binder's syndrome, which is characterized by localized nasomaxillary hypoplasia resulting in a flat nasal bridge and a short, retracted columella. The columella and upper lip are depressed into the floor of the nose, and the anterior nasal spine is absent. Angle class III malocclusion is usually present.

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

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

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

Velocardiofacial syndrome is characterized by overt or submucous clefting of the palate and cardiac abnormalities. Most patients have abnormal facial features, including narrow palpebral fissures and a prominent nose with a square nasal root and narrow alar base. The anterior nasal spine is present.

References
1. Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. New York, NY: Oxford University Press; 1990:740-742.
2. Munro IR, Sinclair WJ, Rudd NL. Maxillonasal dysplasia (Binder's syndrome). Plast Reconstr Surg. 1979;63:657.
3. VanderKolk CA. Craniofacial surgery. Clin Plast Surg. 1994;21:481-631.

According to the Tessier classification, which of the following clefts is most closely associated with macrostomia?

(A) No. 1
(B) No. 3
(C) No. 5
(D) No. 7
(E) No. 9

Reproduced with permission of Tessier P. Anatomical classification of facial, cranio-facial, and latero-facial clefts. J Maxillofac Surg. 1976;4:69.
The correct response is Option D.

The Tessier classification of craniofacial clefting was first proposed in 1973. This system integrates both tissue findings and underlying skeletal deformities; embryopathogenesis is not considered. According to the Tessier system, the No. 7 cleft manifests as macrostomia and absence of the zygomatic arch. This common sporadic cleft, which has variable expressivity, is more likely to be seen in male neonates and occurs in one of every 3000 births.

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

The Tessier No. 3 cleft involves the orbit. It begins in the alveolus between the lateral incisor and canine and extends through the maxilla into the lacrimal bone. This cleft is commonly referred to as a naso-ocular cleft because the inferomedial wall of the orbit is absent. Associated soft-tissue deformities include shortening of the nose, colobomas of the nasal alae and the lower eyelids medial to the punctum, obstruction of the nasolacrimal duct, malformation of the lower canaliculus, and hypoplasia of the medial canthal tendon.

With the rare Tessier No. 5 cleft, the cleft moves laterally and becomes oblique. It begins beneath the canine and extends through the maxillary sinus to the orbital floor. Colobomas of the lateral lower eyelids and clefting of the upper lip medial to the oral commissure are associated.

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

Reference
1. Kawamoto HK Jr. Rare craniofacial clefts. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:2945-2951.

A 25-year-old woman comes for evaluation because she desires surgical correction of a gummy smile and a weak chin. On examination, she has clinical signs consistent with long face syndrome. Which of the following is the most appropriate management?

(A) Anterior segmental maxillary osteotomy with intrusion of the anterior segment
(B) Le Fort I osteotomy with inferior repositioning of the maxilla
(C) Le Fort I osteotomy with superior repositioning of the maxilla and genioplasty
(D) Sagittal split osteotomy with mandibular advancement and genioplasty
(E) Sliding genioplasty

The correct response is Option C.

In this patient who has long face syndrome resulting from vertical maxillary hyperplasia, the most appropriate management is Le Fort I osteotomy with superior repositioning of the maxilla combined with genioplasty. Long face syndrome is characterized by excessive length of the lower third of the face. Affected patients have lip incompetence with the lips in repose, a large interlabial gap, and excessive maxillary incisor show with the upper lip at rest; normal maxillary incisor show is quantified as 2 mm to 3 mm. In addition, the nasolabial angle is obtuse and the alar bases are narrow and constricted. Occlusion is often Angle class II with an anterior open bite. The chin is often vertically long and somewhat retruded.

Le Fort I osteotomy with superior repositioning of the maxilla (intrusion) should be performed for management of this patient's vertical maxillary excess. If autorotation alone does not correct the chin positioning, genioplasty can be performed as well. Sagittal split osteotomy with mandibular setback may also be considered in order to effectively treat the malocclusion without significantly repositioning the maxilla.

Anterior segmental osteotomy with intrusion will treat the transverse maxillary arch deformities but not the vertical maxillary excess. Le Fort I osteotomy with inferior repositioning will only further increase lower facial height. As mentioned above, sagittal split osteotomy with mandibular advancement and genioplasty can be used in conjunction with Le Fort I osteotomy in this patient to correct the Angle class II malocclusion and/or any facial asymmetry, but will not address all of this patient's facial concerns if performed alone. Sliding genioplasty will treat the weak chin only, and not the maxillary excess, nose and lip findings, or malocclusion.

References
1. Schendel SA. Vertical maxillary deformities. In: Ferraro JW, ed. Fundamentals of Maxillofacial Surgery. New York, NY: Springer-Verlag; 1997:284-286.
2. Wolford LM, Fields RT. Surgical planning. In: Booth PW, Schendel SA, Hausamen JE, eds. Maxillofacial Surgery. London, England: Churchill Livingstone, Inc; 1999;2:1205-1257.

Which of the following craniosynostotic disorders is NOT characterized by anomalies of the extremities?

(A) Apert syndrome
(B) Carpenter syndrome
(C) Crouzon syndrome
(D) Nager syndrome
(E) Pfeiffer syndrome

The correct response is Option C.

Patients with Apert syndrome have symmetric syndactyly of the hands and feet; other findings include synostosis of multiple sutures, exorbitism, and midface hypoplasia. In Carpenter syndrome, partial digital syndactyly and preaxial polysyndactyly of the feet are combined with suture synostosis. Nager syndrome is an autosomal recessive disorder in which the extremity anomalies range from hypoplasia to agenesis of the radius, thumbs, and metacarpals. Hypoplasia of the orbits, zygoma, maxilla, and mandible and auricular defects are also found. Patients with Pfeiffer syndrome have broad thumbs and halluces in addition to the suture synostosis. Partial syndactyly of the second and third digits has also been identified.

Crouzon syndrome is characterized by craniosynostosis, exorbitism, and midface retrusion; the extremities are unaffected.

References
1. Alexander CS. Craniofacial anomalies and principles of their correction. In: Georgiade GS, Riefkohl R, Levin LS, eds. Textbook of Plastic, Maxillofacial and Reconstructive Surgery. 3rd ed. Baltimore, Md: Williams & Wilkins; 1992:273-296.
2. McCarthy JG, Epstein FJ, Wood-Smith D. Craniosynostosis. In: McCarthy JG, ed. Plastic Surgery. Philadelphia, Pa: WB Saunders Co; 1990;4:3013-3053.
3. Meyerson MD, Jensen KM, Meyer JM, et al. Nager acrofacial dysostosis: early intervention and long-term planning. Cleft Palate J. 1977;14:35-40.