SEARCH

SEARCH BY CITATION

Keywords:

  • Kabuki make-up syndrome;
  • Niikawa-Kuroki syndrome;
  • short stature;
  • long palpebral fissures;
  • prominent ears;
  • absent teeth;
  • congenital hip dislocation

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.