Crouzon syndrome is an autosomal dominant, rare genetic disorder often demonstrating complete penetrance and variable expressivity. It is frequently associated with cervical vertebrae abnormalities which often remain undetected. This article reports the case of an incidental finding of cervical vertebral anomaly of atlanto-occipital assimilation in an 8.5 year old boy who reported with chief co...

The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. Here we investigate the effect of this mutation on FGFR3 activation in HEK 293 T cells over a wide range of fibroblast growth factor 1 concentrations using a physical-chemical approach that deconvolutes the effects of the mutation on dimerization, ligand binding...

This retrospective radiographic controlled study investigates the dental phenotype in patients with Crouzon syndrome to determine if differences are observed as suggested by FGFR2C342Y/+ mouse models, and whether these models could be of interest role this mutation tooth development. We assessed using dedicated linear measurements 22 children compared morphology both primary permanent dentition...

Monobloc Le Fort III distraction osteogenesis allows superior skeletal advancement in treating severe syndromic craniosynostosis. We report a rare orbital complication in a 3-year-old boy with Crouzon syndrome who developed right-eye exodeviation with limited abduction during the intradistraction period following this surgery. Images from a computed tomography scan confirmed direct impingement ...