Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3038149 | Brain and Development | 2007 | 4 Pages |
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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Authors
Raffaella Zannolli, Sabrina Buoni, Francesca Macucci, Renato Scarinci, Massimo Viviano, Alessandra Orsi, Giovanni de Aloe, Michele Fimiani, Luca Volterrani, Maria M. de Santi, Clelia Miracco, Michele Zappella, Joseph Hayek,