Kabuki syndrome: a review study of three hundred patients.

TitleKabuki syndrome: a review study of three hundred patients.
Publication TypeJournal Article
Year of Publication2002
AuthorsWessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
JournalClinical dysmorphology
Volume11
Issue2
Pagination95-102
Date Published2002 Apr
Abstract

The Kabuki (make-up) syndrome identified in 1981 has been reported in more than three hundred patients. Typical findings include mild to moderate mental retardation, fetal pads, cleft palatei, and characteristic faciesi with long palpebral fissuresi, everted lower laterali eyelids and arched eyebrows. Postnatal growth retardation, skeletal and viscerali anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.

Alternate JournalClin. Dysmorphol.
Citation Key12002156