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

Cevizci R., Bezgin S. Ü., Dizdar H. T., YILMAZ O., Kersin B., Bayazıt Y. A.

International Journal of Pediatric Otorhinolaryngology Extra, vol.13, pp.13-15, 2016 (Scopus) identifier identifier


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.