Revised diagnostic criteria for the Marfan syndrome Article Report uri icon

Overview

MeSH Major

  • Cardiovascular Diseases
  • Cause of Death
  • Electrocardiography
  • Signal Processing, Computer-Assisted

abstract

  • 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; 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.

publication date

  • May 13, 1996

Research

keywords

  • Report

Identity

Digital Object Identifier (DOI)

  • 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R

PubMed ID

  • 8723076

Additional Document Info

start page

  • 417

end page

  • 26

volume

  • 62

number

  • 4