Beals-Hecht综合征1例报告

Beals-Hecht syndrome:a case report and literature review

目的报道1例FBN2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FBN2基因有2个新发杂合变异c.2944T>G(p.C982G)和c.6518A>G(p.N 2173S),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 FBN2 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.2944T>G(p.C982G)and c.6518A>G(p.N2173S),both of which were missense variants.Conclusion Beals-Hecht syndrome involves multiple systems,and gene detection is helpful for diagnosis.