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