Branchio-oculo-facial syndrome

Branchio-oculo-facial (BOF) syndrome is a rare autosomal dominant disorder that has a distinct phenotype with characteristic craniofacial abnormalitie s. These consist of branchial anomalies, including supra-auricular sinuses, and aplastic cervical skin lesions, with possible ectopic dermal thymus, m alformed auricles, stenotic external auditory canals, conductive hearing lo ss, ocular abnormalities (microphthalmia and lacrimal duct obstruction), an d pseudocleft of the upper lip. Extracraniofacial malformations are uncommo n. We describe two new cases of BOF and discuss the classical clinical pres entation and differential diagnosis. Our two patients presented with facial nerve paralysis and were also were found to have inner ear dysplasias with associated sensorineural hearing loss which, to our knowledge, have not be en described in the literature in association with this syndrome. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.