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Long‐term follow‐up of three individuals with Kabuki syndrome
Author(s) -
Shalev Stavit A.,
Clarke Lorne A.,
Koehn David,
Langlois Sylvie,
Zackai Elaine H.,
Hall Judith G.,
Mcdonald McGinn Donna M.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20375
Subject(s) - kabuki , palpebral fissure , kabuki syndrome , term (time) , short stature , psychology , medicine , developmental psychology , pediatrics , gerontology , demography , surgery , art , physics , quantum mechanics , visual arts , sociology
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. © 2003 Wiley‐Liss, Inc.