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Kabuki syndrome: a review study of three hundred patients.

Title	Kabuki syndrome: a review study of three hundred patients.
Publication Type	Journal Article
Year of Publication	2002
Authors	Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
Journal	Clinical dysmorphology
Volume	11
Issue	2
Pagination	95-102
Date Published	2002 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 Journal	Clin. Dysmorphol.
Citation Key	12002156