[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment].
The Niikawa-Kuroki syndrome is a rare syndrome characterized by multiple congenital 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 fissures, long eyelashes, high arched eyebrows, missing lateral incisors 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.
Lüerssen
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K
Klinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover.
Ptok
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D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006312:Hearing Loss, Bilateral / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D007805:Language Development Disorders / Q000175:diagnosis*; D013064:Speech Disorders / Q000175:diagnosis*; D013577:Syndrome