Work

Genetic analysis of non‐syndromic craniosynostosis

Year: 2007
Type: review
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.
Author: SA Boyadjiev
Language: English
Subfield: Surgery
Field: Medicine
Open Access status: bronze
OpenAlex ID: W2164204351
FWCI: 0.521
Cites: 55
Cited by: 138
Related to: 10