Table 3.
The information of patients’ clinical manifestation and family history
| Patients | |||||
|---|---|---|---|---|---|
| AD234 | AD392 | AD533-1 | AD680-1 | AD437 | |
| Age (y) | 24 | 38 | 5 | 14 | 37 |
| Gender | Male | Female | Male | Male | Female |
| Height (cm) | 178 | 167 | 120 | 180 | 177 |
| Weight (kg) | 70 | 58 | 23 | 52 | 71 |
| Cardiovascular system | |||||
| Aortic diameter (cm) | 5.6 | 3.5 | 3.3 | 3.2 | 4.7 |
| Z-score | 8.8 | 2.0 | 6.8 | 2.1 | 6.2 |
| Aortic dissection | Y | N | N | N | Y |
| Skeletal system | |||||
| Pectus carinatum deformity | Y | NA | Y | N | Y |
| Wrist and thumb signs | Y | Y | Y | Y | Y |
| Scoliosis or thoracolumbar kyphosis | N | N | N | Y | N |
| Joint hypermobility | NA | Y | N | N | N |
| Reduced upper segment/lower segment ratio AND increased arm/height | N | N | NA | Y | N |
| Hindfoot deformity | NA | Y | N | N | NA |
| Ocular | |||||
| Ectopia lentis | N | Y | N | N | NA |
| Myopia/strabismus | Y | Y | Y | Y | N |
| Other features | |||||
| Skin striae | N | Y | N | N | Y |
| Family history | Y | NA | N | N | Y |
Y presence of criterion, N absence of criterion, NA not available