TGFBR2基因突变致Loeys-Dietz综合征1例报告

目的 探讨Loeys-Dietz综合征的临床特点及其相关致病基因。方法 回顾分析1例Loeys-Dietz综合征患儿的临床资料,并复习相关文献。结果 男性患儿,6月龄,面容特殊,双眼内陷、眼距增宽、双眼外斜视、下颌短小,腭弓高、悬雍垂分裂,全身肌张力低,四肢远端关节松弛,指趾细长;生后2周诊断“先天性马蹄内翻足”;心脏彩超示主动脉窦瘤形成;基因检测示TGFBR2基因c.1085A>G(p.His362Arg)杂合变异,确诊Loeys-Dietz综合征。结论 主动脉瘤形成、眼距过宽以及悬雍垂裂,并结合致病基因突变可确诊Loeys-Dietz综合征。

Loeys-Dietz syndrome caused by mutation in TGFBR2 gene: a case report

Objective To explore the clinical characteristics and related pathogenic genes of Loeys-Dietz syndrome. Method The clinical data of Loeys-Dietz syndrome in a child were retrospectively analyzed and the related literature was reviewed. Results A 6-month-old boy was characterized with special facial features (enophthalmos, hypertelorism, exotropia, short mandible, high palatal arch and bifid uvula) and other features (lower muscular tension, relaxed distal joints and spiderlike fingers/toes). He was diagnosed with talipes equinovarus 2 weeks after birth. Color Doppler echocardiography indicated the formation of aortic sinus aneurysm, and gene detection showed the heterozygous variation of c.1085A>G (p.His362Arg) in TGFBR2 gene. The diagnosis of Loeys-Dietz syndrome was confirmed. Conclusion Loeys-dietz syndrome can be diagnosed based on the aortic aneurysm formation, hypertelorism and bifid uvula, combined with pathogenic gene mutation.