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

Mustafa Tekin, Suat Fitoz, Serap Arici, Ergun Cetinkaya, Armagan Incesulu

Research output: Contribution to journalArticle

12 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)885-889
Number of pages5
JournalInternational Journal of Pediatric Otorhinolaryngology
Issue number5
StatePublished - May 1 2006



  • Cochlear aplasia
  • Deafness
  • Hearing loss
  • Inner ear anomalies
  • Kabuki syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine
  • Surgery

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