Marfan's syndrome
| Incidental findings | |
| +ve signs | Arachnodactyly, thick spectacles/blue sclera, high arched palate, pectus excavatum |
| Differential diagnosis |
Marfan’s (↑lens dislocation) Homocystinuria (↓lens dislocation, mental retardation) |
| Function | Hand function |
| Tests |
FBC, CXR Anticentromere, Anti Scl-70 |
Extensions
Thumb sign: Clench thumb in fist
Wrist sign: Put patient’s fingers around other wrist, can overlap by 1cm
Look in mouth for high arched palate
Cardiovascular examination: mitral prolapse, aortic regurgitation
Notes
Need annual echocardiogram: Prophylactic replacement of aortic root when diabeter 50-55mm
Beta blockade to slow rate of aortic root dilation
Mutation of fibrillin (FBN1) gene on chromosome 15