FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

Abstract excerpt

ongenital contractural arachnodactyly (CCA; OMIM #121050) and Marfan syndrome (MFS; OMIM #154700]) are autosomal dominant disorders of connective tissue that are often difficult to differentiate clinically because of phenotypic similarities. 2] Ectopia lentis is a complication present in approximately half of patients with MFS. The most common cardiovascular complication in patients with MFS is progressive...

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