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Indian Journal of Otolaryngology and Head & Neck Surgery logoLink to Indian Journal of Otolaryngology and Head & Neck Surgery
. 2007 Oct 5;59(3):280–283. doi: 10.1007/s12070-007-0081-7

Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

Mohan Kameswaran 1,✉, R S Anand Kumar 1, Sathiya Murali 1, S Raghunandhan 1, K Karthikeyan 1
PMCID: PMC3452117  PMID: 23120453

Abstract

Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identified as the primary cause of BOR syndrome. We present a 3year old child with BOR syndrome, who came to us with bilateral low set, malformed ears & profound cochlear hearing loss along with bilateral branchial fistulae & unilateral renal agenesis. This child underwent successful cochlear implantation recently. The clinical presentation, pre-operative investigations, intra-operative findings & post-op habilitation status are presented with special highlights on the unique facial nerve course along with middle and inner ear anomalies which posed a surgical challenge during cochlear implantation.

Keywords: Branchio-oto-renal syndrome, Renal EYA1 gene, facial nerve anomaly

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