title: Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.
abstract: 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.
authors.affiliation: Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey. mtekin@medicine.ankara.edu.tr
authors.forename: Mustafa
authors.initials: M
authors.lastname: Tekin
authors.forename: Suat
authors.initials: S
authors.lastname: Fitoz
authors.forename: Serap
authors.initials: S
authors.lastname: Arici
authors.forename: Ergun
authors.initials: E
authors.lastname: Cetinkaya
authors.forename: Armagan
authors.initials: A
authors.lastname: Incesulu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D003051:Cochlea / Q000002:abnormalities*; D003638:Deafness / Q000151:congenital* / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000235:genetics; D006801:Humans; D008297:Male; D013577:Syndrome; D014722:Vestibule, Labyrinth / Q000002:abnormalities*