BRANCHIOOCULOFACIAL SYNDROME - BROADENING THE SPECTRUM

We present 3 individuals, a mother, her son, and an unrelated child, w ith a number of manifestations reported in the branchio-oculo-facial s yndrome (BOFS). The former 2 individuals lacked the ocular and branchi al abnormalities normally encountered in this syndrome. However, unila teral renal agenesis was present in the first child, a defect infreque ntly found in the BOF syndrome. Both the mother and her son also had b ilateral supra-auricular sinuses. These defects may represent persiste nce of the otic vesicle sinus tract. The second child has a mild expre ssion of this condition, among the mildest reported in the literature. The BOFS appears to represent a spectrum involving the development of the optic vesicles, branchial arches, eyes, face, lips, and kidneys. The variations seen in this disorder and the overlap between this cond ition and the branchio-oto-renal syndrome may represent different muta tions within a single gene or may be a contiguous gene deletion syndro me. (C) 1994 Wiley-Liss, Inc.