Kabuki make-up and Turner syndromes in the same patient

Clin Dysmorphol. 1994 Oct;3(4):297-300.


We describe a 2-year-old girl with clinical features of both Turner syndrome and Kabuki make-up syndrome. Cytogenetic analysis of 100 cells derived from skin and peripheral lymphocytes showed a 45,X karyotype. Phenotypically she has most of the features expected in a girl with 45,X, but in addition is microcephalic with the dysmorphic features of Kabuki make-up syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Face / abnormalities*
  • Female
  • Humans
  • Karyotyping
  • Lymphocytes / pathology
  • Phenotype
  • Skin / pathology
  • Syndrome
  • Turner Syndrome / complications
  • Turner Syndrome / genetics*