MARFAN'S SYNDROME AND THE WEILL-MARCHESANI SYNDROME IN THE S. FAMILY

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Abstract
At least 33 members (17 of whom are now dead) in six generations of the S. family have displayed features characteristic of Marfan''s syndrome (31 cases) or suggestive of the Weill-Marchesani syndrome (2 cases). If these latter 2 cases are accepted as examples of the Weill-Marchesani syndrome, it seems reasonable to assume that the morphologic differences between the 2 syndromes are of insufficient importance to justify any genetic difference. The incidences of the stigmata of Marfan''s syndrome in the 17 affected members known to have been examined by physicians or optometrists were dislocation of ocular lenses, 94% of cases; dolichocephaly, 94%; arachnodactyly, 70%; clinical evidence of aortic disease, 15%. The incidences of these stigmata did not change appreciably from one generation to the next in the medically examined affected members of the fourth, fifth and sixth generations. Affected male members now dead had a lower fertility rate (average, 0.4 child each) and a lesser capacity to transmit the abnormal gene (average, 0.1 affected child each) than did affected female members (average, 4.7 children each; average, 2.3 affected children each). The average lifespan of 16 deceased affected members was 45 years. Cardiovascular diseases caused the deaths of at least 11 of 17 affected members; aortic disease accounted for at least three of the 11 deaths attributed to cardiovascular diseases. These observations support the conclusions that, in this family, Marfan''s syndrome is transmitted by a single pleiotropic abnormal gene; expression of this gene results in an abiotrophy of the cardiovascular system; and prohibition of child-bearing by affected females would be expected to reduce the number of affected individuals in succeeding generations.