Cutis aplasia as a feature of Kabuki syndrome

Clin Dysmorphol. 2006 Jul;15(3):179-180. doi: 10.1097/01.mcd.0000204992.92484.5f.

Abstract

This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Ear / abnormalities
  • Ectodermal Dysplasia / pathology*
  • Eyebrows / abnormalities*
  • Eyelids / abnormalities*
  • Face / abnormalities
  • Foot Deformities, Congenital / pathology
  • Hand Deformities, Congenital / pathology
  • Humans
  • Infant
  • Male
  • Nose / abnormalities*
  • Syndrome