The Marfan syndrome is a heritable disorder of connective tissue with assumed but unproven inborn errors of protein metabolism, whose prevalence and clinical importance are inadequately appreciated.
THE Marfan syndrome is classified as a heritable disorder of connective tissue because clinical and pathological alterations involve supporting elements. It long has been assumed that an inborn error of protein metabolism, particularly in collagen or elastin, accounts for the Marfan syndrome, but conclusive evidence is not yet available. Moreover, the extent of biochemical variability in structural proteins associated with health and disease is for the most part unknown, one result being that the prevalence and clinical importance of all the heritable disorders of connective tissue are inadequately appreciated. On the basis of recent experience, the prevalence of what we . . .
Pyeritz et al. (Thu,) conducted a review in Marfan syndrome. The Marfan syndrome is a heritable disorder of connective tissue with assumed but unproven inborn errors of protein metabolism, whose prevalence and clinical importance are inadequately appreciated.
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