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Marfan syndrome

Marfan syndrome

(Science: radiology) Connective-tissue disorder: autosomal dominant, 15% sporadic, cardiovascular system (probable cause of death in 93%), aortic aneurysm (mostly ascending), dilatation of aortic sinuses, aortic dissection, coarctation, musculoskeletal system, tall stature, long limbs, arachnodactyly, lax joints, scoliosis (60%) / kyphosis / pectus, eye, lens subluxation Cf: homocystinuria More info: marfan syndrome


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Re:

... lathyrismus, and thus had long and flexible fingers ;) Or maybe he had Marfan syndrome.I was teasing my friend that she has it because of long limbs(my sick sense of humor)

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by zami'87.
Sun Nov 08, 2009 7:12 pm
 
Forum: Cell Biology
Topic: Extensibility of collagen
Replies: 7
Views: 3508

Re: Natural selection is proven wrong

... * Adrenal Hypoplasia Congenita * Adrenoleukodystrophy * Aicardi Syndrome * Alagille Syndrome * Albinism/Hypopigmentation * Alexander Disease ... * Lipid Storage Diseases * Long Q-T Syndrome * Macular Degeneration * Marfan Syndrome * Marshall Syndrome * McCune-Albright Syndrome * Menkes Disease ...

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by gamila
Thu Apr 23, 2009 4:16 am
 
Forum: Evolution
Topic: Natural selection is proven wrong
Replies: 247
Views: 620214

heterozygote defective genes

... are characterised by a dominant or semi-dominant phenotype. In humans, Marfan syndrome is an example of a dominant negative mutation occurring in an autosomal dominant disease. ...

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by pohely
Sun Nov 04, 2007 10:03 pm
 
Forum: Genetics
Topic: heterozygote defective genes
Replies: 6
Views: 2416

The Fiber Disease

... often life-threatening, heritable connective tissue diseases such as Marfan syndrome, supravalvular aortic stenosis and cutis laxa. Elastic-fibre function is also frequently ...

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by London
Wed Nov 22, 2006 8:01 pm
 
Forum: Human Biology
Topic: The Fiber Disease
Replies: 7403
Views: 4989892

Genetics of Marfan Syndrome

... for that gene, there is a possibility of the offspring having Marfan Syndrome.

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by Navin
Wed Aug 02, 2006 11:10 am
 
Forum: Genetics
Topic: Genetics of Marfan Syndrome
Replies: 3
Views: 2119
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