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, ŞAZİYE

doi:10.1016/j.ijporl.2005.09.025

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

Atıf İçin Kopyala

Tekin M., Fitoz S., Arici S., Cetinkaya E., Incesulu A.

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, cilt.70, sa.5, ss.885-889, 2006 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 70 Sayı: 5
Basım Tarihi: 2006
Doi Numarası: 10.1016/j.ijporl.2005.09.025
Dergi Adı: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.885-889
Eskişehir Osmangazi Üniversitesi Adresli: Evet

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.