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

Tekin M., FİTOZ Ö. S., Arici S., Cetinkaya E., Incesulu A.

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

  • 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
  • Anahtar Kelimeler: cochlear aplasia, deafness, hearing loss, inner ear anomalies, Kabuki syndrome, MAKE-UP-SYNDROME, PENDRED-SYNDROME
  • Ankara 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.