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.
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Kameswaran, M., Kumar, R.S.A., Murali, S. et al. Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge. Indian J Otolaryngol Head Neck S 59, 280–283 (2007). https://doi.org/10.1007/s12070-007-0081-7
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DOI: https://doi.org/10.1007/s12070-007-0081-7