Abstract
Treacher Collins syndrome (TCS) is a craniofacial developmental disorder of the first and second pharyngeal arches, with a high penetrance and variable expressivity related to malfunctions in migration of facial structures during embryonic development and TCOF1 gene mutation in approximately 90% of the cases. A 26-year-old man (patient 1) presented with bilateral hypoplasia of the zygomatic bone, palpebral fissures with lower eyelid coloboma, bilateral microtia, severe mandible micrognathia, and a convex facial profile. Further familial investigation led to patients 2 (34 years old) and 3 (38 years old), exhibiting mild but similar clinical features, indicating a broad phenotypic variability among the patients. These evidences clearly show an autosomal dominant familial pattern of TCS and its varied expression. The patients are currently being followed up by the local basic health unit.
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