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

@article{SchranderStumpel2005KabukiSC,
  title={Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.},
  author={Constance T. R. M. Schrander-Stumpel and Liesbeth Spruyt and Leopold M G Curfs and Truus Defloor and Jaap J.P Schrander},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={132A 3},
  pages={234-43}
}
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… CONTINUE READING

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