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 ?