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A member asked:
My 24 yo daughter was tested for marfan with echo at age 15 because her wingspan was 4 inches longer. it was negative. could she still have it?
2 doctors weighed in across 2 answers
Most likely not: Usually Marfans has a constellation of signs. If echo was negative, and she is otherwise normal, most unlikely. Things to look for are high arched palate, joint hypermobility, if she circles her wrist with her hand, do the thumb and fingers overlap? Does she have a caved in chest, if she folds her thumb across her hand, does it go past the side of the palm. These are signs to look for. See Dr.
Answered 3/12/2016
1.5k views
Yes!: I do not know what test you had done but it does not sound like you had the definitive test done. You are looking for a defective gene, in particular, the FBN1 gene, which makes fibrillin. Check out this on the net.
Answered 3/12/2016
1.5k views
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