The Branchio-Oto-Renal syndrome. (Report of two family groups)

M. Raspino, V. Tarantino, L. Moni, E. Verrina, M. R. Ciardi, R. Gusmano

Research output: Contribution to journalArticle

Abstract

The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, aer 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.

Original languageEnglish
Pages (from-to)138-141
Number of pages4
JournalJournal of Laryngology and Otology
Volume102
Issue number2
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Otorhinolaryngology

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