Question 77 · LEK · Marfan syndrome

Which of the following can be anticipated in a child with Marfan syndrome (mutation in the FBN1 gene encoding fibrillin-1):

1) proportional above-average height;
2) abnormal joint flexibility;
3) male gender;
4) scoliosis;
5) aortic stenosis;
6) cataract.
The correct answer is:
  1. A. all the above.
  2. B. 1,2,4,5,6.
  3. C. 2,3,4.
  4. D. 2,5,6.
  5. E. 2,4.
Hint

Recall the body proportions, the typical lens and aortic lesions and the inheritance pattern in Marfan syndrome.

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