The branchio-oculo-facial syndrome

Abstract

We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delineated autosomal dominant disorder with highly variable expression. This condition has a distinctive phenotype with characteristic craniofacial abnormalities consisting of aplastic or hemangiomatous cervical skin lesions with or without branchial sinuses; malformed, rotated auricles; and ocular abnormalities, which include microphthalmia or anophthalmia, coloboma, and cataract. The term pseudocleft has been used to describe the upper lip and philtrum abnormality found in mild cases, but the expression may extend to that of a complete cleft lip and palate. This unique disorder may go undetected in patients followed in cleft palate or craniofacial clinics and may not be recognized in patients with mild expressions. Genetic counseling for affected individuals is imperative because of the 50 percent recurrence risk. We emphasize the multidisciplinary care required to correct their craniofacial anomalies.