产前诊断Apert综合征1例并文献复习  

A case of prenatal diagnosis of Apert syndrome and literature review

作　　者：李显筝[1] 胡晶晶[1] 蔡婵慧 钟银环[1] Li Xianzheng;Hu Jingjing;Cai Chan-hui;Zhong Yinhuan(Guangdong women and children hospital,Guangzhou 511400,Guangdong,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2021年第4期52-55,58,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的总结1例产前Apert综合征的临床资料及其家系的基因诊断,结合文献探讨该病的特点、产前诊断及鉴别诊断。方法报告1例产前Apert综合征的超声影像、磁共振影像、尸体解剖等辅助检查及基因诊断结果,结合文献进行分析。结果产前三维超声以及引产后尸检提示胎儿以颅缝早闭、双手双足并指/趾畸形、颜面部畸形为主要临床表现,基因检测提示胎儿存在FGFR2基因的第7外显子的杂合突变。结论FGFR2基因c.755C>G(p.S252W)突变是该例Apert综合征的致病原因,影像表现结合基因分析可助确诊及产前诊断。Objective The clinical data and genetic diagnosis of a case of prenatal Apert syndrome(AS)were summarized,and the characteristics,prenatal diagnosis and differential diagnosis of the disease were discussed combined with literature.Methods A case of prenatal AS was diagnosed by ultrasonography,MRI imaging and genetic diagnosis.Results Prenatal three-dimensional ultrasound and post-labor autopsy indicated that the main clinical manifestations of the fetus were Craniosynostosis,Hand-bipedal syndactyly/dactyly deformity,and Facial deformity.Genetic testing indicated that the fetus had heterozygous mutation in exon 7 of FGFR2 gene.Conclusions The mutation of FGFR2 gene c.755C>G(p.S252W)is the pathogenic cause of this case of AS,and imaging findings combined with genetic analysis can help to confirm the diagnosis and prenatal diagnosis.

关 键 词：APERT综合征 颅缝早闭 FGFR2基因 基因突变 

分 类 号：R714.55[医药卫生—妇产科学]