Table 1.
Clinical detail of the patients with FBN1 mutation in this study.
| Individuals | Pedigree 1 | Pedigree 2 | Pedigree 3 | ||||
|---|---|---|---|---|---|---|---|
| III: 17 | IV: 7 | II: 6 | II: 6 | III: 2 | II: 2 | III: 1 | |
| Age (years) | 33 | 10 | 45 | 41 | 14 | 29 | 5 |
| Gender | Male | Female | Male | Male | Male | Female | Female |
| Height (cm) | 187 | 151 | 173 | 175 | 185 | 182 | 130 |
| Ocular system | |||||||
| Ectopia lentis | − | − | + | − | − | − | − |
| Myopia | + | + | − | − | + | − | − |
| Cardiovascular system | − | ||||||
| Diameter of aortic root (mm) | 45 | 30 | 60 | 67 | 36 | 43 | ∗ |
| Aortic dissection | + | − | − | − | − | − | ∗ |
| Mitral valve prolapse | − | − | − | + | + | − | ∗ |
| Tricuspid valve prolapse | − | − | − | − | + | − | ∗ |
| LVED (mm) | 53 | 41 | 72 | 81 | 58 | 49 | ∗ |
| LVEF (%) | 60 | 62 | 50 | 35 | 54 | 66 | ∗ |
| Systemic features | |||||||
| Thumb sign | + | + | − | − | + | + | ∗ |
| Wrist sign | + | + | − | − | + | + | ∗ |
| Thin body | + | + | + | + | + | + | ∗ |
| Arachnodactyly | + | + | − | − | + | + | ∗ |
| Pectus excavatum; scoliosis | − | − | − | − | − | − | + |
∗ represents unknown information.