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* Why is this not marfan's?
 #848831  
  steponefirst - 03/09/18 17:17
 
 
A tall Patient from Third year Class of a medical school with arachnodactyly, hyperextensible
joints, mitral valve prolapse, dislocation of the lens of the eye, and a high risk for thoracic
aortic dissection is most likely having:

The answer is given as Homocystinuria
 
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* Re:Why is this not marfan's?
#3362397
  cardio69 - 03/09/18 18:11
 
  That's why you shouldn't read books that author lack of knowledge. The first mistake 3MS that not gone happen pat with Homocystinuria ( they gone have the intellectual disability) 2nd lens is typically dislocated downward (rather than upward as in MFS) and in homocystinuria include thrombotic events.

DONT READ that kind of book & resources.


 
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* Re:Why is this not marfan's?
#3362400
  rose366 - 03/09/18 18:23
 
  homocystinuria and MEN2B also have Marfanoid features.  
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* Re:Why is this not marfan's?
#3362401
  steponefirst - 03/09/18 18:33
 
  Rose366, is there any part of the questions that, to you, clearly rules out marfan's and MEN2B, and clearly makes this homocystinuria? Additionally, there is the issue of the patient being a third year med student. Most sources I have seen highlight intellectual disabilites as being a key feature/difference, when comparing marfan's to homocystinuria.  
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* Re:Why is this not marfan's?
#3362431
  virgo32 - 03/10/18 09:42
 
  @steponefirst in which book did you read this?  
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