先天性软骨发育不全1例报告并文献复习-国际临床研究杂志-CSCIED科技核心评价数据库-手机版

先天性软骨发育不全1例报告并文献复习

A case of congenital achondroplasia report and literature review

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DOI	10.12208/j.ijcr.20230247
刊名	国际临床研究杂志 International Journal of Clinical Research
年，卷(期)	2023, 7(6)
作者	陈星宇,王爱萍*,周焕珍,杨宏梅,郑洪存,马建英,
作者单位	昆明市第一人民医院儿童生长发育管理中心云南昆明 ;
摘要	报道1例FGFR3基因突变导致先天性软骨发育不全病例。方法回顾性分析1例软骨发育不全婴儿的临床资料，并检索相关文献，总结其基因型及临床特点。结果患儿女，5月龄，以头围大、四肢短小及生长迟缓为主要临床表现，基因分析显示该患儿FGFR3基因第10外显子c.1620C>G（p.N540K）的杂合突变，为错义突变。结论软骨发育不全是导致非匀称性身材矮小的罕见疾病，通过对该病的临床及基因特点进行总结，以提高早期诊断率。
Abstract	Objective To report a case of congenital achondroplasia with mutation in FGFR3 gene. Methods The clinical data of congenital achondroplasia in a girl were retrospectively analyzed, the related literatures were reviewed and its clinical features and genotypes were summarized. Results A girl, 5 months old, had macrocephaly, short limbs and growth retardation. Gene analysis showed that there was a variation in the FGFR3 gene of the girl, c.1620C>G (p.N540K), which was missense variants. Conclusion Achondroplasia is a rare disease that leads to asymmetric short stature. In order to improve the early diagnosis rate, the clinical and genetic features of the disease were summarized.
关键词	婴儿；软骨发育不全；成纤维细胞生长因子受体3；突变
KeyWord	Infat; Achondroplasia; Fibroblast growth factor receptor 3; Mutation
基金项目
页码	16-21

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引用本文

陈星宇,王爱萍*,周焕珍,杨宏梅,郑洪存,马建英. 先天性软骨发育不全1例报告并文献复习 [J]. 国际临床研究杂志. 2023; 7; (6). 16 - 21.

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