Table1 of
Fu, Mol Vis 2014; 20:812-821. Table1 of
Fu, Mol Vis 2014; 20:812-821.
Table1. Summary of clinical information of subjects with FBN1 mutation.
| Patient ID | III:2 | III:7 | III:8 | III:9 | III:12 | III:14 | IV:6 | IV:7 | IV:12 | IV:13 | IV:14 | V:4 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age/Gender | 61/F | 59/M | 55/M | 42/F | 59/F | 67/F | 44/F | 41/M | 31/F | 28/F | 44/M | 8/F |
| Ocular system | ||||||||||||
| Ectopia lentis | + | + | + | + | + | + | + | + | - | - | + | - |
| Myopia | + | + | + | - | + | + | + | + | + | + | - | - |
| Strabismus | - | - | - | - | - | - | - | - | - | - | - | - |
| Glaucoma | - | - | - | + | - | - | - | - | - | + | - | - |
| Retinal detachment | - | + | - | - | - | - | - | - | + | + | - | - |
| Cardiovascular system | ||||||||||||
| Aortic root dimentsion (cm) | 2.2 | 2.4 | 2.3 | NA | NA | 2.5 | 2.1 | NA | 2.5 | 2.2 | 2.2 | NA |
| Mirral valve prolapse | - | - | - | - | - | - | - | - | - | - | - | - |
| Aortic aneurysm | - | - | + | - | - | - | - | - | - | - | - | - |
| Skeletal system | - | - | - | - | - | - | - | - | - | - | - | - |
| Height (cm) | 160 | 170 | 180 | 162 | 158 | 180 | 168 | 176 | 168 | 166 | 180 | 120 |
| Scoliosis | - | - | - | - | - | - | - | - | - | - | - | - |
| Arachnodactyly | - | - | + | - | - | - | - | + | + | - | - | - |
| Joint hypermobility | - | - | - | - | - | - | - | - | - | - | - | - |
| Pectus excavatum/ carinatum | - | - | - | - | - | - | - | - | - | - | - | - |
| Great Saphenous Vein | ||||||||||||
| Symptoms and sign | + | + | + | + | + | + | + | + | - | + | + | - |
| GSV surgery | - | + | - | - | - | + | - | - | - | - | - | - |
| Other manifestations | ||||||||||||
| Hyperextensible skin | + | + | + | - | + | + | + | + | + | + | + | - |