...Eloise Stanton; Mark Urata; Jian-Fu Chen; Yang Chai ABSTRACT Craniosynostosis is a major congenital craniofacial disorder characterized by the premature fusion of cranial suture(s). Patients with severe craniosynostosis often have impairments in hearing, vision, intracranial pressure...

...Kevin K. L. Lee; Emma Peskett; Charlotte M. Quinn; Rosanna Aiello; Liliya Adeeva; Dale A. Moulding; Philip Stanier; Erwin Pauws ABSTRACT FGFR2c regulates many aspects of craniofacial and skeletal development. Mutations in the FGFR2 gene are causative of multiple forms of syndromic craniosynostosis...

... the interaction of multiple cell-cell signaling pathways, with fibroblast growth factors (FGFs) and their receptors exerting a prominent influence. Mutations within the FGF signaling pathway are the most frequent cause of craniosynostosis, which is a common human craniofacial developmental abnormality...