Revised diagnostic criteria for the Marfan syndrome.

  title={Revised diagnostic criteria for the Marfan syndrome.},
  author={Anne De Paepe and Richard B. Devereux and Harry C. Dietz and Raoul C.M. Hennekam and Reed E. Pyeritz},
  journal={American journal of medical genetics},
  volume={62 4},
In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 1988]. Over time, weaknesses have emerged in these criteria, a problem accentuated by the advent of molecular testing. In this paper, we propose a revision of diagnostic criteria for Marfan syndrome and related conditions. Most notable are: more stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual… 

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