Crouzon?????6??????????

目的加强对Crouzon综合征的认识。方法对2007年1月至2010年10月在中国人民解放军总院儿科和首都医科大学附属北京儿童医院临床诊断Crouzon综合征的6例患儿临床资料进行总结并回顾相关文献。结果 Crouzon综合征有典型的颅面特征,主要表现为短头、眼眶浅、眼球突出、鹰钩鼻、上颌骨发育不良和下颌相对前突等颅面畸形。手足外观正常。常伴视力障碍、听力异常、鼻塞及上下呼吸道阻塞等。结论 Crouzon综合征是一种常染色体显性遗传病,发病机制不明,目前主要倾向FGFR突变介导的颅缝早闭,致使面中部发育不良,尚无特殊治疗,部分可对症进行手术修复,对其病理机制应进一步探讨,早期进行产前诊断。

Six cases of Crouzon syndrome and literature review.

Objective To improve of awareness of Crouzon syndrome.Methods Clinical data of 6 cases were summarized with literature review.Results Characteristic facial features of Crouzon syndrome included coronal craniosynostosis with variable involvement of other calvarial sutures,brachycephaly,hypertelorism,proptosis,beaking of the nose,maxillary hypoplasia and mandibular prognathism.There was no deformity of the hands and feet.It was often complicated with visual disorder,hearing loss,nasal obstruction and airway obstruction.Conclusion Crouzon syndrome is an autosomal dominant disorder of facial development.We remain relatively ignorant about the developmental pathogenesis of the disorder.While most developmental research has focused on the impact of these mutations on the development of the calvaria,the most challenging clinical manifestation of the FGFR mediated craniosynostosis may be midfacial hypoplasia.There is no permanent control method for Crouzon syndrome.It becomes increasingly important to focus on research that will impact the patients we treat.