Oral and dental development in X chromosome aneuploidy

Clin Genet. 1985 Feb;27(2):122-6. doi: 10.1111/j.1399-0004.1985.tb00198.x.


Though frequently noted, orofacial anomalies in poly X syndromes have been seldom reviewed. In a study of patients with an X chromosome aneuploidy (XXXXX, XXXX, XXXXY, XXXY) the following facial and dental defects were found to be characteristic features of these syndromes: mainly bifid uvula and macroglossia, enamel defects, dental taurodontism and abnormal roots. These observations are discussed in the light of the possible role of X-linked genes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Aneuploidy*
  • Child
  • Dental Enamel / abnormalities
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Macroglossia / genetics*
  • Male
  • Psychomotor Disorders / genetics
  • Sex Chromosome Aberrations / genetics*
  • Syndrome
  • Tooth Abnormalities / genetics*
  • Uvula / abnormalities*
  • X Chromosome*