关键词: Loeys-Dietz综合征；　TGFBR2基因；　突变

Abstract: 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.

Key words: Loeys-Dietz syndrome;　TGFBR2 gene;　mutation