title: Dominant inheritance of Kabuki make-up syndrome.
abstract: 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.
authors.affiliation: School of Allied Health Sciences, Yamaguchi University, Ube, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Tsukahara
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
authors.forename: K
authors.initials: K
authors.lastname: Imaizumi
authors.forename: Y
authors.initials: Y
authors.lastname: Miyazawa
authors.forename: K
authors.initials: K
authors.lastname: Matsuo
mesh_terms: 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