From: Marfan syndrome and cardiovascular complications: results of a family investigation
Parameters | P1 | P2 | P3 | P4 | P5 | P6 | Total |
---|---|---|---|---|---|---|---|
Height | 1.88 | 1.83 | 1.78 | 1.92 | 1.68 | 1.69 | Mean 1.79 |
Arm span/height ratio > 1, 05 | yes | yes | yes | yes | no | no | 4 |
Reduced US/LS | yes | yes | yes | yes | yes | no | 5 |
Face: | |||||||
- Dolicocephaly | yes | yes | yes | yes | yes | no | 5 |
- Enophtalmos | yes | yes | yes | yes | yes | no | 5 |
- Down-slanting palpebral fissures | yes | no | no | no | yes | no | 1 |
- Malar hypoplasia | yes | yes | yes | yes | yes | no | 5 |
- Retrognathia | yes | yes | yes | yes | yes | no | 5 |
Pectus carinatum | no | no | no | no | no | no | 0 |
Pectus excavatum | yes | yes | yes | no | yes | no | 4 |
Thumb sign | yes | yes | no | yes | yes | no | 4 |
Wrist thumb | yes | yes | no | no | yes | no | 3 |
Scoliosis | no | no | no | no | no | no | 0 |
Thoracolumbar kyphosis | no | no | no | yes | yes | no | 2 |
Plain plat foots | yes | yes | yes | yes | yes | no | 5 |
Reduced elbow extension | yes | no | yes | no | no | no | 2 |
Skin striae | yes | yes | yes | yes | yes | no | 5 |