From: Identification of gross deletions in FBN1 gene by MLPA
 | 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 |