TABLE 2

Systemic Scoring System for the Revised Ghent Diagnostic Criteria for Marfan Syndrome (Shown in Table 1)

FeatureValue
Wrist and thumb sign3
Wrist or thumb sign1
Pectus carinatum2
Pectus excavatum or chest asymmetry1
Hindfoot deformity (eg, valgus)2
Pes planus1
Pneumothorax2
Dural ectasia2
Protrusio acetabulae2
Reduced upper-to-lower segment ratio and increased arm-span-to-height ratio1
Scoliosis or thoracolumbar kyphosis1
Reduced elbow extension1
Craniofacial features: 3 of the following—dolichocephaly, downward-slanting palpebral fissures, enophthalmos, retrognathia, and malar hypoplasia1
Skin striae1
Myopia1
Mitral valve prolapse1
  • Adapted from Loeys et al.3 Z score calculations are based on Roman et al.38