- Autosomal dominant – 25% new mutant
Features
- Skeletal
- arachnodactyly
- Long limbs, tall stature
- Pectus deformity
- Scoliosis
- Ligamentous laxity
- Dislocation or subluxation of patella
- No osteopenia on X-ray
- Cardiac
- Aortic regurge
- Aortic dilation
- Aneurysm
- Ocular
- Myopic
- Superior dislocation of the lens
Treatment
- Aggressive investigation of the heart
- Early treatment of scoliosis