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
陈丹 1田文 1孙丽颖 2钟文耀 2郭阳 2黄志峰 2赵宗璇2
作者信息
- 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
- 折叠
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.
Abstract
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Key words
Congenital abnormalities/Genetics/Freeman-Burian syndrome/Sheldon-Hall syndrome/Distal arthrogryposis引用本文复制引用
基金项目
北京积水潭医院"学科新星"计划(XKXX202201)
出版年
2024
NETL
NSTL
万方数据