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Marfan's Syndrome with Aortic Thrombosis

AMA Arch Intern Med. 1957;99(3):485-486. doi:10.1001/archinte.1957.00260030167017.
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In 1896 Marfan 1 described a congenital condition which is now commonly known as arachnodactyly, a term originally suggested by Achard, in 1902.2 Currently, Marfan's syndrome may include, in addition to arachnodactyly, dislocation of the lenses, cardiovascular abnormalities, and skeletal defects. Although many cases show a strong familial tendency, McKusick3 notes that 15% are de novo mutations. The commonest features of this syndrome are increased height, lengthening of the long bones, decreased subcutaneous fat, underdeveloped musculature, relaxation of the ligaments, kyphosis or scoliosis, sternal deformities, such as pectus excavatum, prominent ears, arched palate, subluxation of the lens in 50% to 80% of the cases, and cardiovascular abnormalities. Although the most unequivocal signs are arachnodactyly and subluxation of the lenses, the prognosis of the patient is determined by the cardiovascular lesions. The syndrome is an abiotrophy in which one or more of the traditional signs may be absent or


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