OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders
in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis …

A dozen years have passed since the first genetic lesion was identified in a family with
craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the …

Purpose More than 60 different mutations have been identified to be causal in syndromic
forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth …

Craniosynostosis, a condition that includes the premature fusion of one or multiple cranial
sutures, is a relatively common birth defect in humans and the second most common …

It has been known for several years that heterozygous mutations of three members of the
fibroblast growth-factor–receptor family of signal-transduction molecules—namely, FGFR1 …

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It
leads not only to secondary distortion of skull shape but to various complications including …

Purpose: Craniosynostosis is a common cranial malformation occurring in 1 per 2,000–
2,500 births. Isolated defects (nonsyndromic) occur in~ 75% of cases and are thought to …

Patients with syndromic craniosynostosis have a molecularly identified genetic cause for the
premature closure of their cranial sutures and associated facial and extra-cranial features …

Occurring once in every 2000 live births, craniosynostosis is one of the most frequent
congenital anomalies encountered by the craniofacial surgeon. Syndromic …

Mutations in the fibroblast growth factor receptor 1, 2 and 3 (FGFR1,-2 and-3) and TWIST
genes have been identified in several syndromic forms of craniosynostosis. There remains …