[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]

Title[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]
Publication TypeJournal Article
Year of Publication1986
AuthorsBraun OH, Schmid E
JournalKlinische P├Ądiatrie
Date Published1986 Jan-Feb

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, epicanthusi, arched eyebrows, broad and depressed nasali 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 etiologyi of this new syndrome is not yet elucidated.

Alternate JournalKlin Padiatr
Citation Key3959492