title: Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation.
abstract: 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 loss 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.
authors.affiliation: Department of Otolaryngology Head and Neck Surgery, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8. s.cushing@utoronto.ca
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Cushing
authors.forename: Laurie
authors.initials: L
authors.lastname: MacDonald
authors.forename: Evan J
authors.initials: EJ
authors.lastname: Propst
authors.forename: Alok
authors.initials: A
authors.lastname: Sharma
authors.forename: Tracy
authors.initials: T
authors.lastname: Stockley
authors.forename: Susan L
authors.initials: SL
authors.lastname: Blaser
authors.forename: Adrian L
authors.initials: AL
authors.lastname: James
authors.forename: Blake C
authors.initials: BC
authors.lastname: Papsin
mesh_terms: D019929:Cochlear Implantation; D003616:Dandy-Walker Syndrome / Q000150:complications*; D006312:Hearing Loss, Bilateral; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000628:therapy*; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D007223:Infant; D007642:Keratosis / Q000150:complications*; D013577:Syndrome