Clinical aspects of the branchio-oto-renal syndrome.
The branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and the stigmata of renal dysgenesis known as Potter facies. Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated and appears to be distinct from other autosomal dominant otobranchial syndromes. Features of the syndrome expressed in three members of a family are fully illustrated, and other reported cases are compared with these to emphasize the importance of prompt, comprehensive otologic, head and neck, uroradiologic, and genetic evaluation and management.
D000328:Adult; D001934:Branchial Region; D002648:Child; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000196:embryology; D008297:Male; D010375:Pedigree; D013577:Syndrome