目的 报道1例FBN 2基因新发杂合变异Beals-Hecht综合征病例。方法 回顾分析1例Beals-Hecht综合征 患儿的临床资料，并检索相关文献，总结其临床特征及基因型。结果 患儿男，3个月28天，存在皱耳、多关节屈曲挛缩 和下肢肌肉发育不良等表现。基因分析显示患儿FBN 2基因有2个新发杂合变异c.2944T>G（p.C982G）和c.6518A>G （p.N 2173 S），均为错义变异。结论 Beals-Hecht综合征可累及多系统，基因检测有助于诊断。

Objective To report a case of Beals-Hecht syndrome with a new heterozygous variation in FBN 2 gene. Methods The clinical data of Beals Hecht syndrome in a child were retrospectively analyzed, the related literatures were reviewed and its clinical features and genotypes were summarized. Results A boy, aged 3 months and 28 days, had wrinkled ears, multi-joint flexion contracture and lower extremity muscular dysplasia. Gene analysis showed that there were two new heterozygous variants in the FBN2 gene of the child, c.2944 T>G (p.C 982 G) and c.6518 A>G (p.N 2173 S), both of which were missense variants. Conclusion Beals-Hecht syndrome involves multiple systems, and gene detection is helpful for diagnosis.