An Unconventional Presentation of Branchio-Oculo-Facial Syndrome

Abstract

Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by branchial or pharyngeal arch malformations, ocular findings, and craniofacial anomalies. Activating mutations in the enhancer-binding protein 2 alpha, TFAP2A, gene is responsible for the autosomal-dominant inheritance of BOFS. While documented patients of BOFS report wide variability in phenotype expressivity, patients typically demonstrate cervical or infra-auricular anomalies, diverse ocular malformations including microphthalmia and coloboma, and highly characteristic pseudo-cleft or palate defects. The authors present the case of an infant with an unconventional presentation of BOFS to highlight key distinguishing features of this disorder, and to emphasize the importance of a multidisciplinary approach in the diagnosis and management of these patients.