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Kabuki syndrome: a review study of three hundred patients

Wessels, Marja W.; Brooks, Alice S.; Hoogeboom, Jeannette; Niermeijer, Martinus F.; Willems, Patrick J.

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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.

Department of Clinical Genetics, Erasmus University, Rotterdam, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands

Correspondence to Marja Wessels, MD, Department of Clinical Genetics, Erasmus University, Rotterdam, Westzeedijk 112, 3016 AH Rotterdam

Tel: +31 10 463 6915; Fax: +31 10 436 7133; E-mail: wessels@kgen.azr.nl

Received: 13 March 2001 accepted: 26 September 2001

© 2002 Lippincott Williams & Wilkins, Inc.