title: 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.affiliation: Madras ENT Research Foundation, No.1, 1st Cross street, Off 2nd Main Road, Raja Annamalaipuram, Chennai, 600 028 Tamil Nadu India.
authors.forename: Mohan
authors.initials: M
authors.lastname: Kameswaran
authors.forename: R S Anand
authors.initials: RS
authors.lastname: Kumar
authors.forename: Sathiya
authors.initials: S
authors.lastname: Murali
authors.forename: S
authors.initials: S
authors.lastname: Raghunandhan
authors.forename: K
authors.initials: K
authors.lastname: Karthikeyan
keywords: Branchio-oto-renal syndrome; Renal EYA1 gene; facial nerve anomaly