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Branchio-oto-renal syndrome.

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.
AuthorsA Garg, R Wadhera, S P Gulati, A Kumar
JournalThe Journal of the Association of Physicians of India (J Assoc Physicians India) Vol. 56 Pg. 904-5 (Nov 2008) ISSN: 0004-5772 [Print] India
PMID19263692 (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

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