Marfan syndrome (MFS), one of the most common inherited connective tissue disorders, is characterized by skeletal, cardiovascular, and ocular abnormalities. It was first described by Bernard Antoine Marfan in 1986. 1 MFS is inherited as an autosomal dominant trait with variable penetrance but there is no family history in at least one-quarter of MFS patients, suggesting the disease may also be caused by new mutations. 2 In 1991, the fibrillin 1 gene (FBN1) which encodes the fibrilin-1 protein, was found to be the locus for mutations that result in MFS FBN1 is located on the long arm of chromosome 15. 3 Fibrillin-1 is a major component of extracellular matrix structures known as microfibrils upon which elastin appears to be deposited. 4 Systemic sclerosis (SSc) is a chronic multisystem disease characterized by widespread vascular dysfunction and progressive fibrosis
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