Branchio-oto-renal syndrome.
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.
Garg
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A
Department of Otorhinolaryngology, PT.BDS PGIMS, Rohtak, India.
Wadhera
R
R
Gulati
S P
SP
Kumar
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A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications / Q000235:genetics*; D001935:Branchioma / Q000150:complications / Q000235:genetics*; D003638:Deafness / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D004423:Ear / Q000002:abnormalities; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male