Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome

Am J Med Genet. 1989 Jul;33(3):376-81. doi: 10.1002/ajmg.1320330317.

Abstract

We report on three individuals (two sibs and their father) with the Kabuki make-up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrence of the Kabuki make-up syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Dermatoglyphics
  • Facial Expression*
  • Female
  • Genes, Dominant
  • Growth Disorders / genetics*
  • Hip Dislocation, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Syndrome
  • Tooth Abnormalities / genetics*