Branchio-Oto-renal syndrome: a report on nine family groups.
This study reviews nine new families with branchio-oto-renal (BOR) syndrome (Online Mendelian Inheritance in Man [OMIM] 113650). Diagnosis was made by studying 10 index cases, and then 22 other previously undetected patients were diagnosed within the nine families. The syndrome consists of conductive, sensorineural, or mixed hearing loss; preauricular pits; structural defects of the outer, middle, or inner ear; renal anomalies; lateral cervical fistulas, cysts, or sinuses; and/or nasolacrimal duct stenosis or fistulas. In our study, all patients first diagnosed in each familial group were recognized on the basis of severe renal anomalies associated with at least one of these symptoms. Our study showed that BOR syndrome is a misdiagnosed disorder, usually recognized in the presence of severe renal failure but often not diagnosed, especially in the adult in the presence of other isolated clinical signs, such as mild branchial or urological anomalies. We stress the meticulous search we performed for renal anomalies and/or hearing loss in all subjects showing minimal signs of branchial defects. BOR syndrome should be suspected in all cases of isolated urological anomalies, even if no other signs of the syndrome are present. After BOR syndrome has been diagnosed in a patient, all family members should be examined for the presence of the syndrome, even if there are only minimal stigmata of the disease.
Servizio di Patologia Neonatale, Dipartimento Pediatria dell'Università di Genova, and the Divisione di Nefrologia, Istituto G. Gaslini, Genova, Italy. carlobellini@ospedale-gaslini.ge.it
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D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis* / Q000235:genetics*; D003951:Diagnostic Errors; D019066:Facies; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree