[Genetics of craniofacial development]

Ned Tijdschr Tandheelkd. 2008 Feb;115(2):61-8.
[Article in Dutch]

Abstract

Congenital craniofacial malformations vary widely in both expression and gravity. To understand congenital craniofacial malformations, knowledge of embryonic development is of essential importance. Craniosynostosis has its origin in the failure of suture development between 2 bone centres or in early closure of the suture by bone centre tissue fusion. Hereditary craniosynostosis phenotypes predominantly arise by autosomal dominant inheritance. So far, the majority of mutations have been found in fibroblast growth-factor receptor genes (FGFR-genes). Different phenotypes are not primarily created by disparities of the receptors, but particularly by tissue-specific expressions.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cranial Sutures / embryology
  • Cranial Sutures / growth & development*
  • Craniofacial Abnormalities / genetics*
  • Craniosynostoses / genetics*
  • Fibroblast Growth Factors / genetics
  • Fibroblast Growth Factors / metabolism
  • Gene Expression Regulation, Developmental
  • Humans
  • Phenotype
  • Receptors, Fibroblast Growth Factor / genetics*
  • Skull / embryology
  • Skull / growth & development*

Substances

  • Receptors, Fibroblast Growth Factor
  • Fibroblast Growth Factors