Kabuki Syndrome: a Review Study of Three Hundred Patients

Overview

Journal Clin Dysmorphol

Date 2002 May 11

PMID 12002156

Citations 26

Authors

Marja W Wessels

Alice S Brooks

Jeannette Hoogeboom

Martinus F Niermeijer

Patrick J Willems

Affiliations

Soon will be listed here.

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 palate, and characteristic facies with long palpebral fissures, everted lower lateral eyelids and arched eyebrows. Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients.

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