Branchio‐oculo‐facial syndrome: Broadening the spectrum

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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.