Revised diagnostic criteria for the Marfan syndrome
1996; Wiley; Volume: 62; Issue: 4 Linguagem: Inglês
10.1002/(sici)1096-8628(19960424)62
ISSN1096-8628
AutoresAnne De Paepe, Richard B. Devereux, Harry C. Dietz, Raoul C. M. Hennekam, Reed E. Pyeritz,
Tópico(s)Cardiac Valve Diseases and Treatments
ResumoIn 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton ed al., 1988]. Over time, weaknesses have emerged in the 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; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; potential contribution of molecular analysis to the diagnosis of Marfan syndrome; and delineation of initial criteria for diagnosis of other heritable conditions with partially overlapping phenotypes. © 1996 Wiley-Liss, Inc.
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