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The branchio-oto-renal syndrome

(Report of two family groups)

Published online by Cambridge University Press:  29 June 2007

M. Raspino ,
V. Tarantino ,
L. Moni ,
E. Verrina ,
M. R. Ciardi  and
R. Gusmano
M. Raspino
Affiliation:
Nephrology and Dialysis Department.
V. Tarantino
Affiliation:
Division of Otolaryngology
L. Moni
Affiliation:
I Pediatric Clinic of the University.
E. Verrina
Affiliation:
Nephrology and Dialysis Department.
M. R. Ciardi
Affiliation:
Nephrology and Dialysis Department.
R. Gusmano*
Affiliation:
Nephrology and Dialysis Department.
*
Prof. Rosanna Gusmano, Director Pediatric Nephrology Dept., G. Gaslini Institute, 16148 Genoa—Italy.
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Summary

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.

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 102 , Issue 2 , February 1988 , pp. 138 - 141
Copyright
Copyright © JLO (1984) Limited 1988

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