Kabuki make‐up (Niikawa‐Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations

作者：Helena G. Ilyina, Iosif W. Lurie, Irena Naumtchik, Dmitry S. Amoashy, Galina Stephanenko, Valery P. Fedotov, Albina Kostjuk · 发表于：American Journal of Medical Genetics · 年份：1995 · DOI：10.1002/ajmg.1320560202 · 被引用次数：58 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Genetic factors in colorectal cancer

We describe clinical manifestations and historical data on ten patients with Kabuki make-up syndrome. All patients are of European ancestry and all have the characteristics of the syndrome, including typical face, retarded physical development, and mild to moderate mental retardation. Two of the probands have low-normal intelligence. Prominent and broad philtrum was described as an important component manifestation of the syndrome. In three families some clinical manifestations of Kabuki make-up syndrome were observed in parents and some other relatives of the probands in three generations. Some phenotypic differences between Asian and non-Asian patients were noted. The possible cause of the syndrome is discussed. The present observations and a literature review suggest autosomal dominant inheritance with different expressivity of the Kabuki make-up syndrome.