Marfan Syndrome

Paper Summary:

The paper begins with a broad overview of the disorder and includes historical information, diagnostic criteria, disease pathophysiology, symptoms and treatment recommendations. The paper concludes with a discussion on disease prognosis and lifestyle guidelines that those with the disease and those with a family history of the disease should be aware of.

From the Paper:

"Marfan syndrome is an often undiagnosed, yet potentially fatal genetic disorder affecting as many as 1 in 5,000 individuals in the United States according to statistics cited by the March of Dimes while Chen cites statistics as 1 in 10,000. Research supports the statistical incidence inconsistency due to the under-reporting of and failure of physicians to properly diagnose Marfan syndrome (Englebert, Uiterwaal, va de Putte, Helders, Sakkers, can Tintelen and Bank; Chen; and Wachter). Chen tells us that Marfan syndrome is "one of the most common single-gene malformation syndromes.""

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