Marfan's Syndrome Flashcards
1
Q
pathogenesis
A
mutation of fibrillin (FBN-1) gene
interstitial tissue is composed of microfibril: strong, ropelike, forms connective tissue
FBN-1 is a main element of microfibril and regulates tissue growth
2
Q
what is it?
A
autosomal dominant
sporadic mutation of fibrillin gene (chromosome 15)
3
Q
how does it present?
A
tall stature disproportionately long limbs ligamentous laxity high arched palate scoliosis pectus excavatum lens dislocation, retinal detachment aortic aneurysm cardiac valve incompetence cardiac abnormalities may result in premature death
4
Q
how is it managed?
A
rarely require orthopaediac surgery - scoliosis and bony procedures for joint instability
soft tissue stabilization of dislocating joint
