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Question..........................2 - psychmledr
#1
A 24 year old male patient who is new to your city comes for a first checkup. He has a medical history significant for two idiopathic deep vein thromboses; he tells you that his brother also had a cerebral sinus thrombosis as a child and his mother had three spontaneous abortions. He has had eye problems in the past but doesn't recall what they were. On physical exam, the patient appears to be very tall and lanky. He does not have hyperextensible joints, a notable chest wall deformity, or small genitalia. You order some lab tests. What genetic syndrome is this patient most likely to have?

A. Marfan syndrome
B. Ehlers-Danlos syndrome
C. Kleinfelter syndrome
D. Homocystinuria
E. Antiphospholipid syndrome
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#2
D. thanks
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#3
D...
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#4
"D" is right.

Homocystinuria is an AR disease, caused by deficiency of cystathionine synthase.
Characterized by arterial or venous thrombotic events, ectopia lentis, a Marfanoid habitus, and cognitive impairment.


What is the difference between ectopia lentis seen in Homocystinuria and that seen in Marfan's?
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#5
Up and out in marfan, down and inwards in homocystinuria
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#6
Right. Thank you.
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