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September 1958

Marfan's Syndrome: A Report of Its Inheritance in Four Generations

Author Affiliations

Los Angeles

AMA Arch Ophthalmol. 1958;60(3):492-497. doi:10.1001/archopht.1958.00940080510024

Voluminous literature has accumulated on Marfan's syndrome since Marfan's original description in 1896 of a child with symmetrical elongation of the extremities, muscular deficiency, and loss of subcutaneous fat. Numerous clinical reports have delineated a syndrome of widespread skeletal, ocular, and cardiovascular defects, with the emphasis of such investigations shifting in recent years to reports of alterations in the great vessels and their late effects. Recent reviews of the subject, namely, those of Ross in 19491 and of McKusick in 1955,2 have summarized these clinical observations since Rados' article in 1942,3 and further survey at this time is probably unnecessary.

There have been, however, comparatively few reports of the inheritance of these defects in a familial pattern.4-9 Recently I have had an opportunity to observe various manifestations of Marfan's syndrome in a four-generation kinship. Believing that such documentation will be useful in studying the genetics of