Table 1.

Scoring of systemic features [12]

Wrist AND thumb sign/wrist OR thumb sign	3 points/1 point
Pectus carinatum deformity/Pectus excavatum or chest asymmetry	2 points/1 point
Hindfoot deformity/Plain pes planus	2 points/1 point
Pneumothorax	2 points
Dural ectasia	2 points
Protrusio acetabuli	2 points
Reduced US/LS AND increased arm/height AND no severe scoliosis	1 point
Scoliosis or thoracolumbar kyphosis	1 point
Reduced elbow extension	1 point
Facial features (3/5): dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia	1 point
Skin striae	1 point
Myopia >3 dioptres	1 point
Mitral valve prolapse (all types)	1 point
Maximum total: 20 points; score ≥ 7 indicates systemic involvement

US/LS upper segment/lower segment ratio