Patient | | | | | | | | | | | |
Age (years) | 49 | 41 | 56 | 51 | 40 | 10 | 52 | 65 | 50 | 33 | 32 |
Sex* | M | F | M | M | F | M | F | M | F | M | M |
Ectopia lentis family history | − | + | + | + | + | + | + | + | + | − | − |
FBN1 change | R122C | N164S | R240C | R545C | R545C | S634P | C652Y | A/G 3963 | IVS6 del T -26 | IVS62 A+8 to C | − |
Skeletal system | | | | | | | | | | | |
Height (cm) | 189 | 163 | 181 | 187 | 170 | 138 | 158 | 184 | 157 | 174 | 185 |
Arm span (cm) | 187 | 167 | 181 | 189 | 166 | 135 | 157 | 197 | 156 | 181 | 197 |
AS/H† (normal <1.05) | 0.99 | 1.02 | 1 | 1.01 | 0.97 | 0.98 | 0.99 |
1.07
| 0.99 | 1.04 |
1.06
|
US/LS‡ (normal >0.87) |
0.81
|
0.79
| 0.93 | 1.07 | 0.9 | 1.03 | 0.9 | 0.94 | 0.92 |
0.85
|
0.78
|
Pectus carinatum | − | − | − | − | + | − | − | − | − | − | + |
Pectur excavatum | − | − | − | + | − | − | − | − | − | − | − |
Scoliosis | − | − | − | − | − | + | − | + | − | − | + |
Arachnodactyly | + | − | − | − | − | − | + | − | − | + | − |
High palate | + | − | − | + | + | + | − | + | − | − | − |
Joint hypermobility | − | − | + | + | + | + | − | − | + | − | − |
Cardiovascular system | | | | | | | | | | | |
Aortic root dimension (mm) | 32 | 28 | 35 |
41
| 32 | 22 |
40
| 39 | 37 | 25 |
40
|
Mitral valve prolapse | + | − | − | − | − | − | − | − | + | − | + |
Ocular system | | | | | | | | | | | |
Lens dislocation | + | + | + | + | + | + | + | + | + | + | + |
Myopia | + | − | + | − | + | − | + | − | − | − | − |
Strabismus | − | − | + | − | − | − | − | − | − | − | − |
Glaucoma | − | − | − | − | − | − | − | + | − | − | − |
Other manifestations | | | | | | | | | | | |
Hyperextensible skin | + | − | + | − | − | − | − | − | − | + | + |
Striae | − | + | + | + | + | − | − | + | − | + | + |
Hernia | − | − | + | − | − | − | − | + | − | − | − |