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.
|
Authors | A Garg, R Wadhera, S P Gulati, A Kumar |
Journal | The Journal of the Association of Physicians of India
(J Assoc Physicians India)
Vol. 56
Pg. 904-5
(Nov 2008)
ISSN: 0004-5772 [Print] India |
PMID | 19263692
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Branchio-Oto-Renal Syndrome
(complications, genetics)
- Branchioma
(complications, genetics)
- Deafness
(complications, diagnosis, genetics, therapy)
- Diagnosis, Differential
- Ear
(abnormalities)
- Humans
- Kidney
(abnormalities)
- Male
|