Review Article
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection
Table 3
Manifestations and signs included in systemic score and systemic score calculation: maximum score = 20 points; score ≥ 7: systemic involvement [
11].
| | Manifestations and signs | Score |
| | Wrist and thumb sign | 3 (wrist or thumb sign: 1) | | Pectus carinatum deformity | 2 (pectus excavatum or chest asymmetry: 1) | | Hindfoot deformity | 2 (plain pes planus: 1) | | Pneumothorax | 2 | | Dural ectasia | 2 | | Protrusio acetabuli | 2 | | Reduced US/LS and increased arm/height and no severe scoliosis | 1 | | Scoliosis or thoracolumbar kyphosis | 1 | | Reduced elbow extension | 1 | | Facial features (3/5) | 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, and retrognathia) | | Skin striae | 1 | | Myopia > 3 diopters | 1 | | Mitral valve prolapse (all types) | 1 |
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