American Journal of Medical Genetics · 1996 · 88 citations · 0 references
Life SciencesGeneticsHuman GeneticsMedical GeneticsGenetic DisordersGenetic SyndromesInherited Disease TestingMendelian DisordersRare Disease GeneticsMarfan Syndrome AortopathyMarfan Syndrome GeneticsMarfan Syndrome Screening
The Marfan syndrome diagnosis was codified in 1986, but weaknesses have emerged over time, especially with the advent of molecular testing. This paper proposes a revision of diagnostic criteria for Marfan syndrome and related conditions. The revised criteria include stricter requirements for relatives of affected individuals, make skeletal involvement a major criterion when at least four of eight typical manifestations are present, incorporate molecular analysis, and outline initial criteria for other overlapping heritable conditions. © 1996 Wiley‑Liss, Inc.
In 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.