Marfan's and other syndromes

[DJmultiplecats]

New poster here! Hope I do this properly.

I have EDS so I learned quite a bit about Marfans while getting diagnosed. FLEK looks much too broad-boned to have Marfans...usually they have a very distinctive gaunt look. EDS is possible, but I'd think we'd have medical history showing frequent dislocations or pain. Also, EDS doesn't explain her height or large hands; unlike Marfans most types of EDS are unconnected to size (the one type of EDS that causes major heart problems is in fact connected to smaller stature).

I agree she looks unusual though. I did think of acromegaly because of the seemingly thickening bone structure in mid-life, and the increased spacing between the teeth, but we definitely would have learned about that post-mortem.

 

[evafiore]

When you hear hoofbeats, don't think zebras. She's tall, with long limbs.

If it were based on that alone, my entire family would have Marfan's syndrome---but we don't; we're just Dutch.

 

[shadowdancer]

This is an article about a family with Marfans (including pics) http://www.dailymail.co.uk/health/a...her-three-daughters-combined-height-30ft.html

 

[Mel 1303]

I am a 6ft tall woman, and I dont have any genetic diseases- I do, however, have tall parents. My dad is 6'5 and my mother is 5'11. My hands are larger than smaller peoples- but in perfect proportion to my frame.

 

[toronto_allie]

She does not have the "look" to me of being Marfans

I have no medical training but I've been thinking this exact thought.

 

[Nayeli-Rose]

I live in Longview, so I heard about this case on the news quite a bit when it happened.

I'm not sure about Marfan's, but it really looks like she might have had vascular Ehlers-Danlos syndrome. The nose, especially. Of course, this is all speculation and I'm not sure it matters much anyway. I have Ehlers-Danlos as well (but a different type) and this was the first thing I thought of when I saw her pictures.

 

[DJmultiplecats]

Vascular EDS is quite rare...and usually presents with short stature: http://www.ednf.org/vascular-type

 

[awillis0513]

One other syndrome I found while research was Fumarase deficiency. It presents mainly in polygamist sects and has a lot of overlap with her symptoms, though they can get much more severe.


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[awillis0513]

Also, my Mom (a mystery and crime buff like me) was a vascular tech for 20+ years. She encountered a lot of Marfan patients over her time and says that FLEK does not appear to her to have Marfans.


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