Cochlear implantation in a child with subtelomeric 1q deletion syndrome and Dandy-Walker malformation


Cevizci R., Bezgin S. U., Turan Dizdar H., Yilmaz O., Kersin B., Bayazit Y. A.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY EXTRA, cilt.13, ss.13-15, 2016 (ESCI, Scopus)

Özet

Subtelomeric 1q deletion syndrome is a rare disorder characterized by severe mental and growth retardation, microcephaly, distinct facial features and corpus callosum abnormalities. Senserineural hearing loss is not common in this syndrome. We report a 2-year-old boy with subtelomeric 1q deletion syndrome presented with typical craniofacial abnormalities and bilateral senserineural hearing loss. Imaging revealed corpus callosum hypogenesis and Dandy-Walker malformation. Cochlear implantation was successfully undertaken using a transmastoid facial recess aproach. After 12-months post-implantation, good audiological outcomes were obtained. Cochlear implantation can be considered for hearing rehabilitation in patients with subtelomeric 1q deletion syndrome and Dandy-Walker malformation. (C) 2016 Elsevier Ltd. All rights reserved.