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.
Shalev
Stavit A
SA
Institute of Genetics, Ha'emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il
Clarke
Lorne A
LA
Koehn
David
D
Langlois
Sylvie
S
Zackai
Elaine H
EH
Hall
Judith G
JG
McDonald McGinn
Donna M
DM
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