Branchio-oto-renal syndrome.
Article
Dans Anglais
| IMSEAR
| ID: sea-90034
ABSTRACT
Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed agenesis of the left kidney.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Malformations multiples
/
Kyste branchial
/
Humains
/
Mâle
/
Syndrome branchio-oto-rénal
/
Adulte
/
Surdité
/
Diagnostic différentiel
/
Oreille
/
Rein
Type d'étude:
Etude diagnostique
langue:
Anglais
Année:
2008
Type:
Article
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