Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue. The majority of MFS cases involve mutations in the FBN1 gene encoding the protein fibrillin-1. Fibrillin-1 is a protein found in the extracellular matrix that is incorporated into the final structure of microfibrils.1 In 25% of cases, the disorder occurs sporadically.2 The most common clinical manifestations resulting from MFS are musculoskeletal, cardiovascular, and ophthalmic. Patients with MFS often present with tall stature, arachnodactyly, and scoliosis, but the severity of the disease varies.
Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue. The majority of MFS cases involve mutations in the FBN1 gene encoding the protein fibrillin-1. Fibrillin-1 is a protein found in the extracellular matrix that is incorporated into the final structure of microfibrils.1 In 25% of cases, the disorder occurs sporadically.2 The most common clinical manifestations resulting from MFS are musculoskeletal, cardiovascular, and ophthalmic. Patients with MFS often present with tall stature, arachnodactyly, and scoliosis, but the severity of the disease varies.