Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.

TitleKabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.
Publication TypeJournal Article
Year of Publication2007
AuthorsZannolli R, Buoni S, Macucci F, Scarinci R, Viviano M, Orsi A, de Aloe G, Fimiani M, Volterrani L, de Santi MM, Miracco C, Zappella M, Hayek J
JournalBrain & development
Volume29
Issue6
Pagination373-6
Date Published2007 Jul
Abstract

We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligoi, ectodermali defect, and hypogammaglobulinemiai A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well. Our report may provide important clues for understanding the pathogenesisi of the KS.

Alternate JournalBrain Dev.
Citation Key17174051