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Brain Dev. 2007 Jul;29(6):373-6. Epub 2006 Dec 14.

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

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1
Department of Pediatrics, Section of Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it

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.

PMID:
17174051
DOI:
10.1016/j.braindev.2006.11.004
[Indexed for MEDLINE]
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