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

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• 作者：Raşit Cevizci^a ; ^{rachous_81@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Selin &Uuml ; st&uuml ; n Bezgin^b ; Handan Turan Dizdar^c ; Oğuz Yılmaz^c ; Burak Kersin^a ; Yıldırım A. Bayazıt^a
• 关键词：1q Subtelomeric deletion ; Cochlear implant ; Dandy&ndash ; Walker malformation
• 刊名：International Journal of Pediatric Otorhinolaryngology Extra
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：13
• 期：Complete
• 页码：13-15
• 全文大小：627 K

文摘

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.