Figure 1.

Dilemma, quality and utility of diagnosis of Marfan syndrome.

Notes: (A) The rarity of MFS poses a dilemma, where an unknown fraction of persons with MFS may not be suspected of having MFS, or he or she may only be identified by major complications or at necropsy. (B) Criteria to estimate the quality of diagnostic criteria, such as the Ghent nosologies, comprise objectivity, reliability, and validity, where objectivity is a prerequisite for reliability, and reliability a prerequisite for validity. When a diagnosis is reliable, then all three qualities should converge. (C) The utility of diagnostic criteria includes medical, social, and psychological dimensions, which depend on context and may diverge. To maximize the overlap of all three dimensions, negotiation, compromise, and consensus are useful for developing diagnostic criteria.

Abbreviation: MFS, Marfan syndrome.