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Old 01-14-2012
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Question A Contortionist's son.

The 12 year-old son of a circus contortionist says that his skin scars and bruises easily. Physical examination reveals distensible skin and hypermobile joints. You suspect an inherited defect in which of the following molecules?

A. Fibrillin
B. Laminin
C. Fibronectin
D. Collagen
E. Keratin
F. Elastin
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Old 01-14-2012
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D : collagen , its Ehlers danlos syndrome ...
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Old 01-14-2012
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Idea!

ANS IS d.its ED syndrome

Last edited by asique143; 01-14-2012 at 07:52 PM.
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Old 01-14-2012
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Whats the difference between Marfans and Ehlers Danlos as far as clinical presentation? Does Marfans not show bleeding and bruising?
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Old 01-15-2012
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yup its ed syndrome due to collagen gene mutation..

it differs frm marfans cuz in marfan long arm n legs r found apart frm ocular, cardiovascular manifestations mainly due 2 weakened elastic tissue..whereas in ed u get fragile skin, hypermobile joints(n not long limbs*), ecchymoses n so on..
bleeding n bruising is not reported in marfans..
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Old 01-15-2012
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D. Collagen
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Old 01-15-2012
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Quote:
Originally Posted by medmarvel View Post
yup its ed syndrome due to collagen gene mutation..

it differs frm marfans cuz in marfan long arm n legs r found apart frm ocular, cardiovascular manifestations mainly due 2 weakened elastic tissue..whereas in ed u get fragile skin, hypermobile joints(n not long limbs*), ecchymoses n so on..
bleeding n bruising is not reported in marfans..
hypermobile joints are also seen in marfans awa in fragile x syndrome.
catch here is skin manifestation ...distensibility which is dont think is seen in any other d/o
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Yup..fragile skin is d catch..
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Old 01-15-2012
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ehlers danlos.....
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Old 01-15-2012
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D ) collagen ED
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