Table 2 Scoring of systemic features

Wrist and thumb sign

3

Wrist or thumb sign

1

Pectus carinatum

2

Pectus excavatum/asymmetry

1

Hindfoot deformity

2

Plain pes planus

1

Pneumothorax

2

Dural ectasia

2

Protrusio acetabuli

2

Reduced upper/lower segment ratio and increased arm span/height and no severe scoliosis

1

Scoliosis or thoracolumbar kyphosis

1

Reduced elbow extension

1

Facial features (3/5)

1

Skin striae

1

Myopia > 3 diopters

1

Mitral valve prolapsed

1