Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Med Genet A. 2005 Jan 30;132A(3):234-43.

Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

Author information

  • 1Research Institute Growth & Development (GROW), Maastricht University, Maastricht, The Netherlands. connie.schrander@gen.unimaas.nl

Abstract

The Kabuki syndrome, or Niikawa-Kuroki syndrome, is a clinically recognizable syndrome of unknown etiology. Clinical findings include early hypotonia, joint laxity, developmental delay, facial dysmorphism, persistent fetal fingertip pads, cleft palate, hypodontia, lip nodules, heart defects, and a variety of other structural defects. Behavior in general is social and pleasant. In collaboration with the Dutch Kabuki Network, we evaluated the medical data of 20 individuals diagnosed with the syndrome and compared them with data from the literature. In our literature review we used convincing cases only. Frequent findings in the oral region are under-reported in the literature: apart from the cleft palate (in about 50%), hypodontia with predominantly absence of the upper lateral incisors, and a full lower lip with symmetrical nodules, or (in a minority) lip-pits are frequent findings. Also under-reported is the presence of a thickened nuchal fold during pregnancy and hydrops in the neonatal period. Clinical recognition in the neonate is difficult. Towards early puberty acute and serious weight excess has been experienced. We suggest that a cytogenetic abnormality should be ruled out in all cases. We provide further guidelines for preventive management.

(c) 2004 Wiley-Liss, Inc.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley
    Loading ...
    Write to the Help Desk