title: Branchio-oculo-facial syndrome: broadening the spectrum.
abstract: We present 3 individuals, a mother, her son, and an unrelated child, with a number of manifestations reported in the branchio-oculo-facial syndrome (BOFS). The former 2 individuals lacked the ocular and branchial abnormalities normally encountered in this syndrome. However, unilateral renal agenesis was present in the first child, a defect infrequently found in the BOF syndrome. Both the mother and her son also had bilateral supra-auricular sinuses. These defects may represent persistence of the otic vesicle sinus tract. The second child has a mild expression 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 condition and the branchio-oto-renal syndrome may represent different mutations within a single gene or may be a contiguous gene deletion syndrome.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
authors.forename: M
authors.initials: M
authors.lastname: McCool
authors.forename: D D
authors.initials: DD
authors.lastname: Weaver
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001934:Branchial Region / Q000002:abnormalities*; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D013577:Syndrome