Dominant inheritance of Kabuki make-up syndrome.

TitleDominant inheritance of Kabuki make-up syndrome.
Publication TypeJournal Article
Year of Publication1997
AuthorsTsukahara M, Kuroki Y, Imaizumi K, Miyazawa Y, Matsuo K
JournalAmerican journal of medical genetics
Volume73
Issue1
Pagination19-23
Date Published1997 Nov 28
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.

Alternate JournalAm. J. Med. Genet.
Citation Key9375917