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Genetic analysis of non-syndromic craniosynostosis
Article first published online: 21 JUL 2007
DOI: 10.1111/j.1601-6343.2007.00393.x
Additional Information
How to Cite
Boyadjiev, S. and for the International Craniosynostosis Consortium (2007), Genetic analysis of non-syndromic craniosynostosis. Orthodontics & Craniofacial Research, 10: 129–137. doi: 10.1111/j.1601-6343.2007.00393.x
Publication History
- Issue published online: 21 JUL 2007
- Article first published online: 21 JUL 2007
- Dates:Accepted 11 March 2007
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Keywords:
- FGFR;
- TWIST;
- craniosynostosis;
- craniofacial;
- birth defects
Structured Abstract
Authors – Simeon A. Boyadjiev
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.