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


Tekin M. , FITOZ S., Arici S. , CETINKAYA E., INCESULU A.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.70, ss.885-889, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 70 Konu: 5
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1016/j.ijporl.2005.09.025
  • Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
  • Sayfa Sayıları: ss.885-889

Özet

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 dysptastic 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. (c) 2005 Elsevier Ireland Ltd. All rights reserved.