The Ghent nosology, defining the major criteria, is described.For diagnosis of Marfan's syndrome, major findings are required in two out of the three main systems affected (heart; eyes; skeleton) as well as involvement of a third organ system. Very few patients match up to these strict criteria.
Skeletal system (four or more of)
Dura
Ocular system
Cardiovascular system
For index case: Diagnosis requires major criteria in at least two different organ systems and involvement of a third organ system
For a relative of an index case: Major criterion in one organ system and involvement of a second organ system
Reference:
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