THE MARFAN SYNDROME is a heritable disease of connective tissue which involves many organ systems but has its chief clinical significance in abnormalities of the ocular, cardiovascular, and skeletal structures. The fully developed syndrome is readily recognized clinically in a tall patient with arachnodactyly who exhibits bilateral lens dislocation and dissecting aneurysm of the aorta. It is important to note, however, that the basic abnormality is generalized in the connective tissue and is not a congenital malformation of viscera. Therefore, the incidence of clinically detectable malformations will increase with age, and clinical abnormality may not be evident in every individual with the syndrome.
Accurate diagnosis is extremely difficult, especially without the full spectrum of clinical abnormality. Although more than 400 cases have been reported in the literature as examples of the Marfan syndrome, fewer than 10% of these are documented with pathological study1,2; the remainder have usually been diagnosed
Wilner HI, Finby N. Skeletal Manifestations in the Marfan Syndrome. JAMA. 1964;187(7):490–495. doi:10.1001/jama.1964.03060200022003