Dominant inheritance of Kabuki make-up syndrome.
We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.
Tsukahara
M
M
School of Allied Health Sciences, Yamaguchi University, Ube, Japan.
Kuroki
Y
Y
Imaizumi
K
K
Miyazawa
Y
Y
Matsuo
K
K
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007564:Japan; D013577:Syndrome