Ke Ronghu, Yang Xianxian, Tianyi Cai, Ge Min, Lei Jiaqi, Mu Xiongzheng
From the *Department of Plastic and Reconstructive Surgery, Huashan Hospital, Fudan University School of Medicine; and †Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
J Craniofac Surg. 2015 Mar;26(2):584-6. doi: 10.1097/SCS.0000000000001472.
Crouzon syndrome is an autosomal dominant craniosynostosis syndrome caused by mutation in the fibroblast growth factor receptor 2 (FGFR-2). Numerous findings from animal studies imply a critical role for FGFRs in the regulation of skeletal development. Here, we report 2 unrelated patients with Crouzon syndrome accompanied by elbow deformity. Subsequently, we analyzed the sequence of the FGFR2 gene and found that both of the patients carried the Cys342Arg mutation. The findings suggest that the C342R mutation in FGFR2 may cause Crouzon syndrome and elbow deformity in Chinese patients.
克鲁宗综合征是一种常染色体显性颅缝早闭综合征，由成纤维细胞生长因子受体2（FGFR - 2）突变引起。动物研究的大量发现表明FGFRs在骨骼发育调控中起关键作用。在此，我们报告2例不相关的伴有肘部畸形的克鲁宗综合征患者。随后，我们分析了FGFR2基因序列，发现两名患者均携带Cys342Arg突变。这些发现提示FGFR2基因中的C342R突变可能导致中国患者出现克鲁宗综合征和肘部畸形。
