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. (C) 2006 Elsevier B.V. All rights reserved.
Zannolli, R., Buoni, S., Macucci, F., Scarinci, R., Viviano, M., Orsi, A., et al. (2007). Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G. BRAIN & DEVELOPMENT, 29(6), 373-376 [10.1016/j.braindev.2006.11.004].
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G
FIMIANI M.;VOLTERRANI L.;MIRACCO C.;
2007-01-01
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. (C) 2006 Elsevier B.V. All rights reserved.File | Dimensione | Formato | |
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https://hdl.handle.net/11365/3579
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