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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.