Tuesday, November 25, 2008

Marfan syndrome

Marfan syndrome (or Marfan's syndrome) is a genetic disorder of the connective tissue affecting about 0.02% of the population....People with Marfan's are typically tall, with long limbs and long thin fingers.

Although there are no unique signs or symptoms of this syndrome, the constellation of long limbs[arm span being more than ur length by 5cm], dislocated lenses[one inside ur eyeballs], and aortic root dilation is sufficient to make the diagnosis with confidence. There are more than thirty other clinical features that are variably associated with the syndrome most involving the skeleton, skin, and joints

Olympic champion Michael Phelps [swimmer] is rumored[!] to be suffering from this though not proven yet!...

thumb sign[Steinberg sign]
-is said to positive when completely opposed within the clenched hand, projects beyond the inner border..... patient in the pic below has been admitted to our paeds wards with a cardiac problem and is diagnosed to have this syndrome[he is almost 6 feet tall and is just 14yrs old]......

13 comments:

Mariposa said...

First time for me to hear it...is this what we commonly refer to as giantism, or this is another case?

Any known causes? Or just simply genetics?

Akshay said...

Michael Phelps: that explains it all.... wow

rantravereflect/ jane said...

OHH MAN, that thumb is quite longgggg..
i guess too much of anything is bad.. :)

the stygian sailor said...

You ll freak out if you see my thumb sign positivity. Abraham Lincoln was marfanoid too. I am just a marfanoid, i dont have fibrillin 1 defect :)

comfortably numb said...

every1 is special in a way!!!

Lakshmi.B.K. said...

I saw this case today. He has pan systolic murmur with a mid-systolic click; a very hyperdynamic chest with dancing carotids. He has fever too, bacterial endocarditis suspected. Also, he has dolicocephaly, high arched palate and defective left eye; joints are hyperextensible.

Satish Bolla said...

interesting to know phelps might have this one

brocasarea said...

@ maripose...no this is different...gigantism is just an excessive growth but here the persons connective tissue is defective....

@ akshay...he has worked it :)

brocasarea said...

@ jane...:)...hope ur are alright:P

@ sailor...hehe...!!!

brocasarea said...

@ lakshmi...ohk!...he may be myopic then!...he has AI due to aortic root dilatation!

brocasarea said...

@ satish...:)

Phoenix said...

umm... our residents said they also have mr n mvp prbs..

brocasarea said...

@ phoenix...uhave examined that case???