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

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.

• Authors: Mohan Kameswaran, R S Anand Kumar, Sathiya Murali, S Raghunandhan, K Karthikeyan
• Journal: Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India (Indian J Otolaryngol Head Neck Surg) Vol. 59 Issue 3 Pg. 280-3 (Sep 2007) ISSN: 2231-3796 [Print] India
• PMID: 23120453 (Publication Type: Journal Article)