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 Marfan's  



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Author6 Posts
  #1

ok guys need some concise clues for distinguishing marfan's from other syndromes which have marfan features associated with them...( keep confusisng them sad)

i thought id use family history, but 30 % of marfan's are sporadic, so thats not reliable.





  #2

ok i came across one hint..

thromboebolism sugeests?



  #3

homocystinuria

FAIR COMPLEXION, THROMBOEMBOLISM AND OSTEOPOROSIS ---->TOWARDS HOMOCYSTINURIA

LENS DISLOCATION DOWNWARDS ( IN MARFAN'S UPWARDS )



  #4

http://www.gpnotebook.co.uk/simplepage.cfm?ID=138...

this was a good one..
  • inheritance:
      Marfan's - autosomal dominant homocystinuria - autosomal recessive
  • lens dislocation:
      Marfan's - upward lens dislocation
    • homocystinuria - downward lens dislocation
    aortic incompetence:
      Marfan's - aortic incompetence may occur
      homocystinuria - heart rarely affected
    intellectual development:
      Marfan's - normal
      homocystinuria - mental retardation
    other principle features:
      Marfan's - flat feet, herniae, scoliosis; there is a 50% reduction in life expectancy

    • homocystinuria - osteoporosis, recurrent thromboembolism; characteristic laboratory features - plasma methionine and homocystine levels are elevated, homocystine is excreted in the urine, plasma cystine levels are reduced, positive urine cyanide-nitroprusside test; response to treatment with pyridoxine

Thank u God



  #5

Mucosal neuromas occur in all MEN2B patients, and marfanoid habitus occurs in 65%. About 5% of MEN2 cases are MEN2B


  #6

the remaining ones i guess are rare stuff we dont need to know





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