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

TitleNiikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.
Publication TypeJournal Article
Year of Publication2006
AuthorsTekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A
JournalInternational journal of pediatric otorhinolaryngology
Volume70
Issue5
Pagination885-9
Date Published2006 May
Abstract

Hearing loss, mainly due to recurrent otitisi media, has been reported in approximately 40% of individuals with Niikawa-Kuroki (Kabuki) syndrome (NKS). Sensorineural hearing loss leading to congenitali 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. Bilaterali absence of the cochleai with dilated dysplastici 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.

Alternate JournalInt. J. Pediatr. Otorhinolaryngol.
Citation Key16325926