Revised diagnostic criteria for the Marfan syndrome

✍ Scribed by De Paepe, Anne; Devereux, Richard B.; Dietz, Harry C.; Hennekam, Raoul C. M.; Pyeritz, Reed E.

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 25 KB
• Volume: 62
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960424)62:4<417::aid-ajmg15>3.0.co;2-r

✦ Synopsis

In 1986, the diagnosis of the Marfan syndrome was codified on the basis of clinical criteria in the Berlin nosology [Beighton et al., 19881. 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; 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.