USMLE Forum Archives - USMLE Step 1 - mcq
mcq
conym5 - 02-26-10 23:46
35 year old patient comes for a first checkup. He has a medical history significant for two idiopathic deep vein thromboses,He has had eye problems in the past . On physical exam, the patient is very tall and lanky. no hyperextensible joints, a notable chest wall deformity, or small genitalia. What genetic syndrome is this patient most likely to have?
conym5 - 02-26-10 23:46
35 year old patient comes for a first checkup. He has a medical history significant for two idiopathic deep vein thromboses,He has had eye problems in the past . On physical exam, the patient is very tall and lanky. no hyperextensible joints, a notable chest wall deformity, or small genitalia. What genetic syndrome is this patient most likely to have?
The correct answer and explanation will be available after you answer.
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#1
Re: mcq mtniharika - 02-27-10 01:07 My answer is: e.
we can rule out:
a.Ehlers-Danlos syndrome - no hyper mobility of joints
b. Marfan syndrome - no chest deformity or skeletal abnormalities
c. Antiphospholipid syndrome - no eunuchoid disproportions
d. Kleinfelter - genitalia normal
#3
Re: mcq
conym5 - 02-27-10 14:22 mniharika is obsolutely right
Ehlers-Danlos syndrome - no hyper mobility of joints
Marfan syndrome - no chest deformity or skeletal abnormalities
Antiphospholipid syndrome - no eunuchoid disproportions
Kleinfelter - genitalia normal
#6
Re: mcq docleena - 03-02-10 01:31 My answer is: d.
becoz kleinfelters are tall pts wth small genitalia.. ehler danlos is ass wth hyperextensable joints
#9
Re: mcq nevillenic - 03-02-10 13:06 My answer is: e.
deficiency of enzyme cystathione synthase-->accumulation of Homocystine---> very reactive substance ----> endothelial damage---> deep vein thrombosis and also atherosclerosis.
tall statue, long fingers, sublaxtaion of lens typical
#11
Re: mcq alexis - 03-03-10 09:09 My answer is: b.
marfan's syndrome is an inherited connective tissue disorder xterizied by excessive tallness,arachnodactyly, partial dislocation of the lenses of the eye. these explains all the positive symptoms in the question
#37
Re: mcq babbu5508 - 04-28-10 23:43 My answer is: c.
ehler danlos, marfans and klinefelter's syndrome are ruled out...the history of recurrent DVT points to antiphospholipid antibody syndrome...
#41
Re: mcq bingousmle - 05-03-10 15:35 My answer is: e.
deficiency of enzyme cystathione synthase-->accumulation of Homocystine---> very reactive substance ----> endothelial damage---> deep vein thrombosis and also atherosclerosis.
tall statue, long fingers, sublaxtaion of lens typical
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