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

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Branchio-Oto-Renal Syndrome
Kidney
Genetic Counseling
Deafness
Renal Insufficiency
Ear

ASJC Scopus subject areas

  • Otorhinolaryngology

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The Branchio-Oto-Renal syndrome. (Report of two family groups). / Raspino, M.; Tarantino, V.; Moni, L.; Verrina, E.; Ciardi, M. R.; Gusmano, R.

In: Journal of Laryngology and Otology, Vol. 102, No. 2, 1988, p. 138-141.

Research output: Contribution to journalArticle

Raspino, M, Tarantino, V, Moni, L, Verrina, E, Ciardi, MR & Gusmano, R 1988, 'The Branchio-Oto-Renal syndrome. (Report of two family groups)', Journal of Laryngology and Otology, vol. 102, no. 2, pp. 138-141.
Raspino, M. ; Tarantino, V. ; Moni, L. ; Verrina, E. ; Ciardi, M. R. ; Gusmano, R. / The Branchio-Oto-Renal syndrome. (Report of two family groups). In: Journal of Laryngology and Otology. 1988 ; Vol. 102, No. 2. pp. 138-141.
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