Author/Authors :
Raffaella Zannolli، نويسنده , , Sabrina Buoni، نويسنده , , Francesca Macucci، نويسنده , , Renato Scarinci، نويسنده , , Massimo Viviano، نويسنده , , Alessandra Orsi، نويسنده , , Giovanni de Aloe، نويسنده , , Michele Fimiani، نويسنده , , Luca Volterrani، نويسنده , , Maria M. de Santi، نويسنده , , Clelia Miracco، نويسنده , , Michele Zappella، نويسنده , , Joseph Hayek، نويسنده ,
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.
Keywords :
Trichrome vitiligo , Ectodermal defect , Kabuki syndrome , immunodeficiency , Mental delay
