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  • Title: Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.
    Author: Zannolli 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.
    Journal: Brain Dev; 2007 Jul; 29(6):373-6. PubMed ID: 17174051.
    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 vitiligo, ectodermal defect, and hypogammaglobulinemia 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 pathogenesis of the KS.
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