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Table 1 Clinical features of the patients

From: Exome sequencing identified new mutations in a Marfan syndrome family

Individuals

3:1

3:5

4:1

Sex/age (yrs)

F/53

M/47

F/24

Age at surgery (years)

46

42

22

Reason for surgery

TAAA, TAD

TAAA, TAD

AAA

Facial features

Dolichocephaly

(+)

(+)

(+)

Enophthalmos

(+)

(+)

(+)

Retrognathia

(+)

(+)

(+)

Cardiovascular system

Aortic root dimension (mm)

50

45

38

Mitral valve prolapse

(-)

(-)

(-)

Ocular system

Lens dislocation

(-)

(-)

(-)

Myopia

(+)

(-)

(+)

Strabismus

(-)

(-)

(-)

Glaucoma

(-)

(-)

(-)

Skeletal system

Height (cm)

176

185

178

Arm span to height ratio

1.02

1.03

1.07

Pectys deformities

(-)

(-)

(-)

Wrist and thumb sign

(+)

(+)

(+)

Scoliosis

(-)

(-)

(-)

Joint hypermobility

(+)

(+)

(+)

Flat feet

(+)

(+)

(+)

Protrusio acetabuli

(+)

(+)

(+)

Other manifestations

Hyperextensible skin

(+)

(+)

(+)

Skin striae

(+)

(-)

(+)

  1. TAAA: thoracoabdominal aortic aneurysm; TAD: thoracic aortic dissection; AAA: abdominal aortic aneurysm.