Long-term follow-up of three individuals with Kabuki syndrome.
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.
Institute of Genetics, Ha'emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il
Stavit A
SA
Shalev
Lorne A
LA
Clarke
David
D
Koehn
Sylvie
S
Langlois
Elaine H
EH
Zackai
Judith G
JG
Hall
Donna M
DM
McDonald McGinn
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D013577:Syndrome