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J Laryngol Otol. 1988 Feb;102(2):138-41.

The branchio-oto-renal syndrome (report of two family groups).

Author information

  • 1Pediatric Nephrology Dept., G. Gaslini Institute, Genoa, Italy.

Abstract

The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia. We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.

PMID:
3346591
[PubMed - indexed for MEDLINE]
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