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Brad Millman, MD; William S. Gibson, MD; Wayne P. Foster, MD

Arch Otolaryngol Head Neck Surg. 1995;121(8):922-925.

Abstract
Branchio-oto-renal (BOR) syndrome is a rare, autosomal dominant genetic disorder involving branchial cleft and renal anomalies, hearing loss, and other otologic manifestations. We report a case of a family with three generations of branchial cleft anomalies and otologic anomalies with hearing loss. A review of the literature, classic clinical presentations, associated findings, and the differential diagnosis of BOR syndrome is presented. Due to BOR syndrome's variability of both penetrance and expression and a high incidence of renal anomalies, the practicing otolaryngologist should consider BOR syndrome when evaluating hearing loss and branchial cleft remnants in any child.

(Arch Otolaryngol Head Neck Surg. 1995;121:922-925)

Author Affiliations
From the Department of Otolaryngology, Geisinger Medical Center, Danville, Pa.

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