1.
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
2.
Article
in English
| IMSEAR
| ID: sea-92293