Marfan's vs. Klinefelter's

[Apoplexy__]

Just got a question that showed a male with very long extremities and pronounced scoliosis. With no other information, they wanted you to diagnose Marfan's. That was fine, but I wasn't sure how one could be positive that the male didn't have Klinefelter's.

What are the distinguishing features between the two appearances? All I could think of was the lack of scoliosis in Klinefelter's, but wasn't even sure that was an absolute.

Are there any other habituses that resemble Marfan's?

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[Brain Bucket]

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[Brain Bucket]

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[bulldogmed]

Just got a question that showed a male with very long extremities and pronounced scoliosis. With no other information, they wanted you to diagnose Marfan's. That was fine, but I wasn't sure how one could be positive that the male didn't have Klinefelter's.

What are the distinguishing features between the two appearances? All I could think of was the lack of scoliosis in Klinefelter's, but wasn't even sure that was an absolute.

Are there any other habituses that resemble Marfan's?

Klinefelter's classically would have gynacomastia.

 

[sazerac]

Just got a question that showed a male with very long extremities and pronounced scoliosis. With no other information, they wanted you to diagnose Marfan's. That was fine, but I wasn't sure how one could be positive that the male didn't have Klinefelter's.

What are the distinguishing features between the two appearances? All I could think of was the lack of scoliosis in Klinefelter's, but wasn't even sure that was an absolute.

Are there any other habituses that resemble Marfan's?

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[oingoboingo]

Homocystinuria can also sort of resemble Marfans (with the obvious exception of the metabolic defect) - they are tall, have lens subluxation (although it is down and inward unlike the superior subluxation in Marfans), and have increased CV risk.

 

[Bancrofti]

In terms of what an MS1/2 would know, the spinal deformity makes marfan's the better answer.

This. For the most part they're always going to give you 2 things in the stem to steer you towards a specific diagnosis. If it was Klinefelter's, instead of the kyphosis you could have expected it to note PE findings of something alluding to low Test, i.e. wide hips, gynecomastia, small testes, inappropriate hair distribution and so on.

Beals syndrome is very similar, but it isn't in First Aid so I wouldn't bother. And whenever I think tall and slender I always think Ehlers Danlos too.

 

[bucks900]

Beals syndrome is very similar, but it isn't in First Aid so I wouldn't bother. And whenever I think tall and slender I always think Ehlers Danlos too.

Is that true? I got a question (on Rx I believe) where the patient had an aortic dissection and the only way to know that the patient did not have Marfans was that the their fingers and arms were of normal length. The answer ended up being Ehlers Danlos Type III.

 

[Bancrofti]

Is that true? I got a question (on Rx I believe) where the patient had an aortic dissection and the only way to know that the patient did not have Marfans was that the their fingers and arms were of normal length. The answer ended up being Ehlers Danlos Type III.

No you're correct, that's an error on my part in a sense.

There a bunch of different types of manifestations of Ehlers Danlos, one of which they can have a Marfanoid habitus as far as being tall/lanky. However, that description is more associated with Marfan Syndrome itself. I haven't hit Uworld yet, but through Kaplan and Rx qbanks, when you get info in a question stem you will serve yourself well to base your answer on what that description is MOST associated with. So far the only place where I've encountered a strong need to know things aside from what is most commonly used or associated with a certain pathology/condition is Pharmacology.

 

[surgok]

pes cavus, pectus excavatum, high arched palate are also seen in Marfanoid habitus.

 

[acciddropping]

Klinefelter has low testosterone, high FSH, LH and Estrogen. Marfan's is a Connective Tissue disease.

 

[Apoplexy__]

Great input, thanks everyone!

 

[Instatewaiter]

Just got a question that showed a male with very long extremities and pronounced scoliosis. With no other information, they wanted you to diagnose Marfan's. That was fine, but I wasn't sure how one could be positive that the male didn't have Klinefelter's.

What are the distinguishing features between the two appearances? All I could think of was the lack of scoliosis in Klinefelter's, but wasn't even sure that was an absolute.

Are there any other habituses that resemble Marfan's?

Marfan's looks like tall, skinny and lanky and incredibly long extremities.

Klinefelter's is a chubby, breasty, effeminate man

 

[CherryRedDracul]

Is this dude an example of a Klinefelter's physique?

 

[dyspareunia]

Homocystinuria can also sort of resemble Marfans (with the obvious exception of the metabolic defect) - they are tall, have lens subluxation (although it is down and inward unlike the superior subluxation in Marfans), and have increased CV risk.

There's also no MR in Marfans. So Marfan habitus plus MR = homocystinuria.