Marfan's Syndrome

  • Marfan syndrome is a genetic disorder in which connective tissue is excessively elastic
  • This syndrome results from a mutation in the fibrillin gene.
  • Anomolies characteristic of this disorder include aortic aneurysms, scoliosis, and ocular defects.
  • Elastic fibers consist of microfibril-associated glycoproteins and fibrillin.
  • Elastic fibers exhibit extreme elasticity.
  • Synthesized by fibroblasts, even though it does not contain collagen. (vocal ligament).
  • In the wall of large blood vessels, especially arteries, elastin also occurs as fenestrated sheets called elastic lamellae
  • Microfibrils of fibrillin alone are used in some organs, such as to hold in place the lens of the eye. Such microfibrils are not elastic but are highly resistant to pulling forces, whereas the mature elastic fibers stretch easily in response to tension.

  • Inherited connective tissue disorder attributed to fibrillin-1 and or fibrillin-2 gene.
  • Mutation affects the network of elastic fibers (major component: elastin) which will let the tissues stretch without tearing.
  • People with this disorder have long limbs and fingers (arachnodactyly), curved spine, displaced lens (ectopia lentis) and cardiovascular problems, like aortic aneurysms and leaky heart valves.
  • A person with Marfan Syndrome is tall and thin built, has disproportionately long arms and legs, and kyphoscoliosis.


Stumble ThisFav This With TechnoratiAdd To Del.icio.usDigg ThisAdd To RedditTwit ThisAdd To Facebook

0 comments:

Post a Comment

 
...