Congenital Craniosynostosis Clinical And Genetic Studies

Background and ObjectiveCongenital craniosynostosis is a common form of craniofacial bonedeformities, refers to the children in the process of growth anddevelopment, due to one or more of joint appear prematureconvergence and cause children with craniofacial bone deformities.Patients with the disease seriously affect the appearance, some canhinder brain development, intelligence, sports developmental disorders.This study aims to through the clinical manifestation of children withcongenital craniosynostosis and gene mutation of study, in order tounderstand the onset of the disease characteristics and genetics.MethodsObserve the20cases of craniosynostosis and2Crouzon syndromefamilies, a total of25cases of patients with clinical manifestations,combining with head CT3d reconstruction results, as well as diseasegenes fibroblast growth factor receptor2(FGFR2) identification of genemutations, understanding the characteristics of the clinical onset of thedisease and molecular genetic basis. Results20cases of the simple craniosynostosis only clinically characterized by one or more of the cranial suture early fusion. Two Crouzon syndrome families patients clinically in addition to show the skulldeformity, but also with exophthalmos, nasal bone bending, and poor occlusion with multiple malformations.20cases of simple craniosynostosis were found no significant FGFR2gene mutations, butwe found two gene mutations of FGFR2in two Crouzon syndromefamilies.Conclusions1) The bone deformities of syndromic craniosynostosis are moreserious, and often with a variety of other malformation；2) Syndromiccraniosynostosis has more strong genetic predisposition；3）We foundthe two mutations in FGFR26and7exons might be one of the reasonthat may cause the Crouzon syndrome in China.