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Article in English | 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.


Subject(s)
Abnormalities, Multiple/genetics , Adult , Branchio-Oto-Renal Syndrome/complications , Branchioma/complications , Deafness/complications , Diagnosis, Differential , Ear/abnormalities , Humans , Kidney/abnormalities , Male
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