Ectodermal abnormalities in Kabuki syndrome

Margherita Lerone, Manuela Priolo, Arturo Naselli, Marina Vignolo, Giovanni Romeo, Margherita Cirillo Silengo

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)263-266
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume73
Issue number3
DOIs
Publication statusPublished - Dec 19 1997

Keywords

  • Absent teeth
  • Brachydactyly
  • Conical teeth
  • Ectodermal dysplasia
  • Long palpebral fissures
  • Mental retardation
  • Niikawa-Kuroki syndrome
  • Short stature
  • Trichorrhexis nodosa

ASJC Scopus subject areas

  • Genetics(clinical)

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