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1. (n.) Marfan syndrome
a hereditary disorder characterized by abnormally elongated bones, hypermotility of the joints, and circulatory and eye abnormalities.
Etymology: (after Antonin Bernard Marfan (1858–1942), French pediatrician, who described it in 1892)
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| Definition of 'marfan syndrome' |
U.S. National Library of Medicine |
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1. marfan syndrome
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
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