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 | (+) | (-) | (+) |