November 14, 2008American Journal of Medical Genetics Part A

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

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Population

279 consecutive patients with suspected Marfan syndrome (144 men and 135 women, mean age 34+/-13 years)

Design

Cohort

Authors

MRMeike RybczynskiUniversität Hamburg ABA. BernhardtMedizinisches Versorgungszentrum Prof. Mathey, Prof. Schofer URU. RehderUniversität Hamburg

Discussion

Member takes

Implication

Referral for suspected MFS warrants broad differential evaluation; leaves open whether any single clinical criterion suffices for diagnosis or exclusion.

Structured PICO

Population

279 consecutive patients with suspected Marfan syndrome (144 men and 135 women, mean age 34+/-13 years)

Intervention

Clinical evaluation for 27 criteria characteristic of Marfan syndrome

Outcome

Final diagnosis (Marfan syndrome, other connective tissue diseases, or no distinct disease) and distribution of clinical criteria

Many patients referred for suspected Marfan syndrome have alternative inherited diseases, and no single clinical criterion is sufficient to confirm or rule out the diagnosis.

Cite This Study

Rybczynski et al. (2008) studied this question.

synapsesocial.com/papers/6a8bca50c12eaf65c8b21a16 https://doi.org/10.1002/ajmg.a.32595

View Full Paper

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Bookmark

Implication

Referral for suspected MFS warrants broad differential evaluation; leaves open whether any single clinical criterion suffices for diagnosis or exclusion.

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider