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Table 3 The information of patients’ clinical manifestation and family history

From: Identification of gross deletions in FBN1 gene by MLPA

  AD234 AD392 AD533-1 AD680-1 AD437
Age (y) 24 38 5 14 37
Gender Male Female Male Male Female
Height (cm) 178 167 120 180 177
Weight (kg) 70 58 23 52 71
Cardiovascular system
 Aortic diameter (cm) 5.6 3.5 3.3 3.2 4.7
Z-score 8.8 2.0 6.8 2.1 6.2
 Aortic dissection Y N N N Y
Skeletal system
 Pectus carinatum deformity Y NA Y N Y
 Wrist and thumb signs Y Y Y Y Y
 Scoliosis or thoracolumbar kyphosis N N N Y N
 Joint hypermobility NA Y N N N
 Reduced upper segment/lower segment ratio AND increased arm/height N N NA Y N
 Hindfoot deformity NA Y N N NA
 Ectopia lentis N Y N N NA
 Myopia/strabismus Y Y Y Y N
Other features
 Skin striae N Y N N Y
Family history Y NA N N Y
  1. Y presence of criterion, N absence of criterion, NA not available