Although no specific therapy exists for MFS, it is of great importance to confirm or firmly exclude the diagnosis in family members at risk as early as possible because of the potential fatal complications of the disease. Development of preventive measures, and surgery for aortic aneurysms and dissection have led to treatments of life-threatening cardiovascular complications associated with MFS and have considerably altered life expectancy for patients. At present, diagnosis is still based on thorough clinical examination, including measurements of body proportions, echocardiography of the aorta, slit-lamp ophthal-mological evaluation, and radiographs. A complete family history is also an essential part of the diagnosis. However, in some cases, the manifestations are not evident until adolescence and the clinical expression of the disease varies greatly between affected members of a single family. Therefore there is an absolute need for an accurate diagnostic test.

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