Marfan Syndrome is an autosomal dominant genetic disease (with variable expressivity) caused by a mutation of fBN1 gene on chromosome 15 leading to a defect in Fibrillin-1 protein which causes increased TGF-ß, and eleastin defect. Symptoms of Marfan syndrome include pectus excavatum or pectus carinatum, tall stature, tall limbs, marfanoid body habitus, scoliosis, hernia, arachnodactyly, dural ectasia, skin hyperelasticity, joint deformity, lens dislocation (ectopia lentis), vision loss, aortic dilation, aortic regurgitation, heart murmurs, dissection, aneurysm, cystic medial degeneration, mitral valve prolapse, pneumothorax, connective tissue disease, problem in elastic connective tissue (elastin protein of the extracellular matrix or ECM). Biochemistry and Genetics.
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Негізгі бет Marfan Syndrome - with a Mnemonic - Biochemistry and Genetics
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