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

C.T.R.M. Schrander-Stumpel*, L. Spruijt, L.M.G. Curfs, T. Defloor, J.J.P. Schrander

*Corresponding author for this work

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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.
Original languageEnglish
Pages (from-to)234-243
JournalAmerican Journal of Medical Genetics Part A
Issue number3
Publication statusPublished - 1 Jan 2005

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