Genetic analysis of non-syndromic craniosynostosis

Research output: Contribution to journalArticle

77 Scopus citations

Abstract

Craniosynostosis is a common malformation occurring in 3-5 per 10 000 live births. Most often craniosynostosis occurs as an isolated (i.e. non-syndromic) anomaly. Non-syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait. It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non-genetic factors contributing to the risk of this common craniofacial defect.

Original languageEnglish (US)
Pages (from-to)129-137
Number of pages9
JournalOrthodontics and Craniofacial Research
Volume10
Issue number3
DOIs
StatePublished - 2007

Keywords

  • Birth defects
  • Craniofacial
  • Craniosynostosis
  • FGFR
  • TWIST

ASJC Scopus subject areas

  • Orthodontics
  • Oral Surgery
  • Otorhinolaryngology
  • Surgery
  • Medicine(all)

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