摘要
目的 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。
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
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.
Key words： Infat; Achondroplasia; Fibroblast growth factor receptor 3; Mutation
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