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Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.

Abstract
Hearing loss, mainly due to recurrent otitis media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenital or prelingual deafness has been described rarely. We have identified two unrelated individuals with Niikawa-Kuroki syndrome among 535 probands who have severe to profound sensorineural deafness. Bilateral absence of the cochlea with dilated dysplastic vestibule and unilateral enlarged vestibule were demonstrated in these two individuals. In conclusion, Niikawa-Kuroki syndrome should be kept in mind when evaluating an individual with congenital deafness and a wide spectrum of inner ear abnormalities occurs in this syndrome.
AuthorsMustafa Tekin, Suat Fitoz, Serap Arici, Ergun Cetinkaya, Armagan Incesulu
JournalInternational journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 70 Issue 5 Pg. 885-9 (May 2006) ISSN: 0165-5876 [Print] Ireland
PMID16325926 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Abnormalities, Multiple (genetics)
  • Adolescent
  • Child
  • Cochlea (abnormalities)
  • Deafness (congenital, genetics)
  • Hearing Loss, Sensorineural (congenital, genetics)
  • Humans
  • Male
  • Syndrome
  • Vestibule, Labyrinth (abnormalities)

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