Genetic analysis of non-syndromic craniosynostosis

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87 Scopus citations


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
Issue number3
StatePublished - 2007


  • Birth defects
  • Craniofacial
  • Craniosynostosis
  • FGFR

ASJC Scopus subject areas

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


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