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Marfan syndrome

Pronunciation: mahr-fahn'

Definition: a connective tissue multisystemic disorder characterized by skeletal changes (arachnodactyly, long limbs, joint laxity, pectus), cardiovascular defects (aortic aneurysm which may dissect, mitral valve prolapse), and ectopia lentis; autosomal dominant inheritance, caused by mutation in the fibrillin-1 gene (FBN1) on chromosome 15q.

Synonym(s): Marfan disease

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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