The branchio-oto-renal syndrome (report of two family groups).
J Laryngol Otol
; 102(2): 138-41, 1988 Feb.
Article
em En
| MEDLINE
| ID: mdl-3346591
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Branquioma
/
Orelha Externa
/
Rim
Limite:
Adult
/
Aged
/
Child
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Female
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Humans
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Infant
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Male
/
Middle aged
Idioma:
En
Revista:
J Laryngol Otol
Assunto da revista:
OTORRINOLARINGOLOGIA
Ano de publicação:
1988
Tipo de documento:
Article
País de afiliação:
Itália