Long-term follow-up of three individuals with Kabuki syndrome |
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| Authors: | Shalev Stavit A Clarke Lorne A Koehn David Langlois Sylvie Zackai Elaine H Hall Judith G McDonald McGinn Donna M |
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| Affiliation: | Institute of Genetics, Ha'emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il |
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| 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. |
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