KABUKI MAKE-UP (NIIKAWA-KUROKI) SYNDROME IN THE BYELORUSSIAN REGISTEROF CONGENITAL-MALFORMATIONS - 10 NEW OBSERVATIONS

We describe clinical manifestations and historical data on ten patient s with Kabuki make-up syndrome. All patients are of European ancestry and all have the characteristics of the syndrome, including typical fa ce, retarded physical development, and mild to moderate mental retarda tion. Two of the probands have low-normal intelligence. Prominent and broad philtrum was described as an important component manifestation o f the syndrome. In three families some clinical manifestations of Kabu ki make-up syndrome were observed in parents and some other relatives of the probands in three generations. Some phenotypic differences betw een Asian and non-Asian patients were noted. The possible cause of the syndrome is discussed. The present observations and a literature revi ew suggest autosomal dominant inheritance with different expressivity of the Kabuki make-up syndrome. (C) 1995 Wiley-Liss, Inc.