Which syndrome is characterized by micrognathia, maxillary hypoplasia, hypoplastic zygomatic arches, small ears, coloboma, and/or cleft palate?

• A. Treacher-Collins syndrome
• B. Pierre Robin sequence
• C. DiGeorge syndrome
• D. Goldenhar syndrome

Answer: (A)

These features point to Treacher-Collins syndrome, a mandibulofacial dysostosis caused by defective neural crest cell migration affecting the first pharyngeal arch. The hallmark is midface hypoplasia with underdeveloped maxilla and zygomatic arches, producing a flattened cheek area, along with micrognathia (a small jaw) and ear anomalies such as small ears. Coloboma of the eyelid can occur, and cleft palate may be present in some cases. This combination—micrognathia, maxillary hypoplasia, hypoplastic zygomatic arches, and ear anomalies with possible eyelid coloboma or cleft palate—fits Treacher-Collins best. Pierre Robin sequence centers on a small mandible with airway issues and cleft palate but lacks the distinctive midface and ear bone hypoplasia. DiGeorge shows thymic and cardiac defects with facial features but not the pronounced zygomatic and maxillary hypoplasia. Goldenhar can include colobomas and ear anomalies with facial asymmetry, but the specific pattern of zygomatic and maxillary hypoplasia is more characteristic of Treacher-Collins.