Branchio-oto-renal syndrome with generalized microdontia - Case report

Branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominan t disorder characterized by anomalies of the external, middle, and inner ea r in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expr essed phenotypic abnormalities include lacrimal duct aplasia and stigmata o f renal dysgenesis known as Potter facies. Although the precise incidence o f the disorder is unknown, it may be more common than is generally apprecia ted, and it appears to be distinct from other autosomal dominant otobranchi al syndromes. Moreover, not all features of the syndrome are expressed in a ll carriers of the gene. An unusual case of branchio-to-renal syndrome with generalized microdontia of the permanent dentition is reported.