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:
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?
Michael Phelps: that explains it all.... wow
OHH MAN, that thumb is quite longgggg..
i guess too much of anything is bad.. :)
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 :)
every1 is special in a way!!!
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.
interesting to know phelps might have this one
@ maripose...no this is different...gigantism is just an excessive growth but here the persons connective tissue is defective....
@ akshay...he has worked it :)
@ jane...:)...hope ur are alright:P
@ sailor...hehe...!!!
@ lakshmi...ohk!...he may be myopic then!...he has AI due to aortic root dilatation!
@ satish...:)
umm... our residents said they also have mr n mvp prbs..
@ phoenix...uhave examined that case???
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