Author(s): Neidich JA, Whitaker LA, Natowicz M, McDonald DM, Schnur R,
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Abstract We describe a severe first branchial arch abnormality including nearly complete absence of mandible, hypoplasia of the maxilla and the zygomatic arches, and complete gingival fusion in a chromosomally normal child born to a nonconsanguineous couple who deny prenatal exposures. A tight orbicularis oris muscle caused the lips to be constantly pursed. Intraoral contents could only be defined after the fused gingiva were separated. The infant had hypoplasia of the buccal cavity with a persistent membrane separating it from the pharynx; palate structures and tongue were absent. The orbits and midface were severely hypoplastic. However, the ears were normal in shape and only slightly low in position. There was unilateral optic nerve coloboma and coronal craniosynostosis. The only noncraniofacial malformation was an atrial septal defect. Embryologically, there is severe malformation of structures arising from the cephalic neural crest cells of both the maxillary and mandibular prominences of the first branchial arch. However, the first branchial cleft region was spared.
This article was published in Am J Med Genet Suppl
and referenced in Journal of Communication Disorders, Deaf Studies & Hearing Aids