[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]

Title[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]
Publication TypeJournal Article
Year of Publication2004
AuthorsLüerssen K, Ptok M
JournalHNO
Volume52
Issue5
Pagination451-4
Date Published2004 May
Abstract

The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenitali anomalies, mental retardation, postnatal growth deficiency, dermatoglyphic abnormalities and a characteristic facial appearance. More than 100 cases of the syndrome have been described in Europe. Here we report a 10 year old girl with this syndrome. Recurrent infections of the middle ear as well as delayed motor and speech development were present. The physiognomy since early infancy showed a flat profil, long palpebral fissuresi, long eyelashes, high arched eyebrows, missing laterali incisorsi and persistent fetal pads on the fingers. The patient was referred to us because of hearing impairment. Her parents also described a delayed motor development, mental retardation and a language impairment. Audiometry demonstrated a pantonal hearing loss. Since children affected by this syndrome may also have a severe hearing impairment early testing is mandatory.

Alternate JournalHNO
Citation Key15138652