Journal
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Volume 72, Issue 5, Pages 693-698Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijporl.2008.01.017
Keywords
cochlear implant; KID Syndrome; pediatrics; sensorineural hearing loss; connexin 26; genetics; GJB2; Dandy-Walker malformation; cerebellum
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Keratosis, Icthiosis, and Deafness (KID) Syndrome is a rare congenital disorder associated with dominant connexin 26 mutations, affecting epidermis, corneal epithelium, and inner ear. Given eventual visual impairment, cochlear implantation is an important consideration despite an increased risk of wound complications. We present a child with KID Syndrome and bilateral profound sensorineural. hearing toss associated with a novel heterozygous missense D50A connexin 26 mutation (c.149A > C). Imaging revealed mild cochlear malformation and Dandy-Walker malformation. She received a cochlear implant at the age of 12 months, using a small incision approach. Following an immediate minor wound infection, implantation has been successful without further complication over 4 years. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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