2. Academic Validation
  3. Kabuki syndrome: a review study of three hundred patients

Kabuki syndrome: a review study of three hundred patients

  • Clin Dysmorphol. 2002 Apr;11(2):95-102. doi: 10.1097/00019605-200204000-00004.
Marja W Wessels 1,  Alice S Brooks,  Jeannette Hoogeboom,  Martinus F Niermeijer,  Patrick J Willems
Affiliations

Affiliation

  • 1 Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. [email protected]
PMID: 12002156 DOI: 10.1097/00019605-200204000-00004
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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