Ectodermal abnormalities in Kabuki syndrome

Am J Med Genet. 1997 Dec 19;73(3):263-6. doi: 10.1002/(sici)1096-8628(19971219)73:3<263::aid-ajmg6>;2-t.


We describe a girl with Niikawa-Kuroki (Kabuki) syndrome (NKS) with conical incisors, hypodontia, hypoplastic nails, and brittle hair. Abnormal teeth are common in NKS and support a hypothesis of autosomal dominant inheritance of the syndrome [Halal et al., 1989; Silengo et al., 1996]. Hair abnormalities have never been investigated in NKS. The ectodermal involvement in NKS could represent an important clue for the understanding of the pathogenesis of this syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Anodontia / pathology
  • Bone and Bones / abnormalities
  • Child
  • Face / abnormalities
  • Female
  • Hair / abnormalities
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Incisor / abnormalities
  • Intellectual Disability / genetics
  • Nails, Malformed
  • Syndrome