关键词: Beals-Hecht综合征； FBN2基因； 关节挛缩

Abstract: 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.

Key words: Beals-Hecht syndrome; FBN2 gene; joint contracture