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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

 

Patients

 

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

Ocular

 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