Freeman-Burian综合征的临床表现、诊断及遗传学特征  

Clinical manifestations,diagnosis and genetic characteristics of Freeman-Burian syndrome

作　　者：陈丹 田文[1] 孙丽颖[2] 钟文耀 郭阳[2] 黄志峰 赵宗璇 Chen Dan;Tian Wen;Sun Liying;Zhong Wenyao;Guo Yang;Huang Zhifeng;Zhao Zongxuan(Peking University of Fourth School of Clinical Medicine,Beijing 100035,China;Department of Hand Surgery,Beijing Jishuitan Hospital,Beijing 100035,China)

机构地区：[1]北京大学第四临床医学院,北京100035 [2]北京积水潭医院手外科,北京100035

出　　处：《中华手外科杂志》2024年第1期9-13,共5页Chinese Journal of Hand Surgery

基　　金：北京积水潭医院"学科新星"计划专项经费资助(XKXX202201)。

摘　　要：目的探究既往临床诊断为Freeman-Burian综合征(Freeman-Burian syndrome,FBS)患者的诊断情况及相关遗传学特点。方法选择我科就诊的6例临床诊断为FBS并且进行了全外显子组基因检测的患者,男5例,女1例,平均年龄2.6岁,开展回顾性研究。对既往留存的患者信息、临床资料、照片、检查结果以及二代测序检测结果进行分析,总结6例患者的临床表现特征及遗传学特点。结果这6例临床诊断为FBS的患者中仅1例符合FBS诊断标准。余下5例患者均为DA 2B型,其中1例DA 2B1型、2例DA 2B2型、1例DA 2B3型、1例DA 2B4型。6例患者均无相关家族史,5例患者为新发突变。1例符合FBS诊断标准的患者存在基因MYH3突变,但遗传形式表现为常染色体隐性遗传。结论本组仅1例为FBS,余5例DA 2B型患者被误诊。Objective To investigate the diagnosis and genetic characteristics of patients previously diagnosed with Freeman-Burian syndrome(FBS).Methods A total of 6 patients(5 males and 1 female)clinically diagnosed with FBS and underwent whole exome genetic testing were selected in our department,with an average age of 2.6 years.The retrospective study was carried out to review the information,clinical data,photos,examinations,and next-generation sequencing results,and summarize the clinical manifestations and genetic characteristics of the 6 patients.Results Among these 6 patients clinically diagnosed with FBS,only 1 met the diagnostic criteria for FBS.The remaining 5 patients were all DA 2B type,including 1 DA 2B1 type,2 DA 2B2 type,1 DA 2B3 type,and 1 DA 2B4 type.None of the 6 patients had a family history,and 5 patients had de novo mutations.One patient who met the diagnostic criteria for FBS had a mutation in the gene MYH3,but the genetic form was autosomal recessive inheritance.Conclusion Only 1 case in this group was FBS,and the remaining 5 cases of DA 2B type patients were misdiagnosed.

关 键 词：先天畸形 遗传学 Freeman-Burian综合征 Sheldon-Hall综合征 远端关节挛缩 

分 类 号：R658[医药卫生—外科学]