FURTHER DELINEATION OF THE BRANCHIOOCULOFACIAL SYNDROME

We review 43 patients (15 new, 28 literature) with the branchio-oculo- facial (BOF) syndrome, which has a distinctive phenotype ranging from mild to severe forms, consisting of eye, ear, oral, and craniofacial a nomalies. Virtually ubiquitous and possibly pathognomonic are the cerv ical/infra-auricular skin defects. Much less common are supra-auricula r defects occurring as isolated anomalies or with cervical defects. Re gardless of location, these lesions may have aplastic, ''hemangiomatou s,'' or otherwise abnormal overlying skin, and draining sinus fistulae . Renal malformations are frequent, but congenital heart and central n ervous system defects are rare. Psychomotor performance is usually nor mal, but development delays, hypotonia, and visual, hearing, and speec h problems are common. Autosomal dominant inheritance seems likely. Ov erlap between the BOF and branchio-oto-renal syndromes has been observ ed, but elucidation of its molecular basis is not yet available. This article also discusses 5 patients with atypical manifestations conside red to be possibly affected or probably unaffected, who are sufficient ly unusual to be excluded from the final data analysis. (C) 1995 Wiley -Liss, Inc.