Could I have Lujan-Fryns syndrome

[moonman239]

I'm going to see a geneticist this year. The last one ordered blood tests for Marfan syndrome and homocysteinuria, both of which turned out negative.

As far as I know, none of my blood relatives have anything similar to Marfan syndrome.

Edit: I should add that I have an aneurysm in the aorta and my initial diagnosis - prior to the blood tests - was Marfan syndrome.

 

[bobze]

Considering that no one here knows your medical record that would make any insight pretty hard. Further, it would be ethically wrong to advise on medical issues over the internet and its against forum rules!

This is something you need to discuss with your doctors.

 

[Ryan_m_b]

Sorry but we do not provide diagnosis or advice here.
https://www.physicsforums.com/showthread.php?t=173247
Please see your doctor.