[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)].
The first case of Niikawa-Kuroki-syndrome (so called Kabuki-make up-syndrome) in Europe and the second one out of Japan has been reported. It concerns a male child with retardation of growth, mental and motoric development. The syndrome can be diagnosed through the typical dysmorphia of the face, epicanthus, arched eyebrows, broad and depressed nasal tip, large malformed ears and stubby fingers. Anomalies of the dermatoglyphic patterns of the fingers observed in the Japanese patients could not be confirmed in our case. There was a normal chromosomal pattern. No further cases in the family could be found. The etiology of this new syndrome is not yet elucidated.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D007564:Japan; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Niikawa-Kuroki-Syndrom (sog. Kabuki-make up-Syndrom).