From: Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature
Report | Variant | Appearance of vascular abnormalities | Original diagnostic suspect |
---|---|---|---|
Choo JTL et al | 1583G > A(R528H), exon 7, TGFBR2 | 2 months | Arthrogryposis |
Ilyn VN et al | / | Prenatal ultrasound | / |
Muramatsu Y et al | c.1370 T > A(M457L), exon 5, TGFBR2 | 1 month | / |
Kuppler KM et al | 1583G > A (R528H), exon 7, TGFBR2 | 3 months | / |
Wisniewski K et al | / | 1 month | / |
Valenzuela I et al | c.1381 T > C, TGFBR2 | 1 month | Arthrogryposis |
Ozawa H et al.; Kawazu Y et al | 598A > C, TGFBR1 | Prenatal ultrasound (36 weeks) | / |
Viassolo V et al | TGFBR2 | Prenatal ultrasound (19 weeks) | / |
Yetman AT et al. [1] | 1583G > A, exon 7, TGFBR2 | 1 month | Beals syndrome, Larsen syndrome, arthrogryposis |
Yetman AT et al. [2] | 1570G > A, exon 7, TGFBR2 | 1 month | Larsen syndrome |
Yetman AT et al. [3] | 1318G > A, exon 5, TGFBR2 | 9 years | Larsen syndrome |
Yetman AT et al. [4] | 865-873delACAGAGAAG, exon 4, TGFBR2 | 1 month | Arthrogryposis, Larsen syndrome |
Yetman AT et al. [5] | IVS5-1G > A (splicing variant), TGFBR2 | 6 months | Beals syndrome |
Chung BHY et al | 1583G > A(R528H), exon 7, TGFBR2 | 1 month | / |
Patient 1 | c.1378C > G, p (Arg460Gly), exon 5, TGFBR2 | 1 month | Loeys Dietz |
Patient 2 | c899G > A, p (Arg300Gin), TGFB3 | / | / |