Table 2 of
Zhang, Mol Vis 2012; 18:55-63. Table 2 of
Zhang, Mol Vis 2012; 18:55-63.
Table 2. Clinical manifestation of the proband and her family members.
| Parameters | III:2 | II:2 | II:1 | I:1 |
|---|---|---|---|---|
| Age | 12 | 35 | 39 | Death at 43 |
| Sex | Female | Female | Male | Male |
| Cardiovascular system | Aortic root dilation (aortic root diameter=50 mm); Aortic regurgitation; Mitral valve regurgitation; Dilatation of the main pulmonary artery. | Aortic root dilation (aortic root diameter=45 mm); Aortic regurgitation. | Aortic root dilation (aortic root diameter=48 mm) | Aortic root dilation; Dissection of the ascending aorta |
| Skeletal system | Arm span to height ratio=1.15; Wrist and thumb signs; Scoliosis of=25°; Pectus excavatum; Dolichostenomelia; Arachnodactyly. | Arm span to height ratio=1.09; Dolichostenomelia; Arachnodactyly; Wrist and thumb signs. | Arm span to height ratio=1.05; Dolichostenomelia; Arachnodactyly; Joint hypermobility. | ? |
| Ocular system | Nil | Nil | Nil | ? |
| Pulmonary system | Nil | Nil | Nil | ? |
| Skin and integument | Striae atrophicae | Nil | Nil | ? |
| Ghent nosology | Fulflled | Not fulflled | Not fulflled | ? |
| TGFBR2 mutation | c.1358T>A, p.V453E | c.1358T>A, p.V453E | c.1358T>A, p.V453E | ? |