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Long-term follow-up of three individuals with Kabuki syndrome
Stavit A Shalev1, Lorne A Clarke, David Koehn
1Institute of Genetics, Ha'emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il
American Journal of Medical Genetics. Part A
|February 26, 2004
Abstract:
Long-term follow-up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed.