Kyphosis, Tall stature, Long limbs, Dislocation of Lens, & Mental retardation Diagnosis!!!!! - USMLE Forums
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  #1  
Old 05-28-2012
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Biochemistry Kyphosis, Tall stature, Long limbs, Dislocation of Lens, & Mental retardation Diagnosis!!!!!

A 5 year-old girl with a history of atherosclerosis and mental retardation is brought to emergency room because of poor vision. Physical examination shows kyphosis, tall stature, and long limbs. The funduscopic examination shows bilateral dislocation. Which of the following should be elevated in the laboratory studies(See the slide below)?


(A)
(B)
(C)
(D)
(E)
(F)
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  #2  
Old 05-28-2012
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now is good ,
it is c
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  #3  
Old 05-28-2012
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C) homocytineuria
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Old 05-28-2012
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Homocysteine
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  #5  
Old 05-28-2012
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Its homocysteine.....homocysteinuria is known to cause marfanoid habitus with a predisposition to atherosclerosis and the lens dislocation is typically inwards and downwards( compare with marfans syndrome where the lens dislocation is outwards and downwards).

Marfans syn, homocysteinuria and MEN 2B syn- all cause marfanoid habitus- an example of locus heterogeneity...
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I wanna know what do you think guys about of both questions today? Easy, interesting, important.
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Old 05-29-2012
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Keep 'em coming!!!
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Correct answer C
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