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April 24, 1996American Journal of Medical Genetics

Revised diagnostic criteria for the Marfan syndrome

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Why the study?

What are the revised diagnostic criteria for Marfan syndrome?

Population

Individuals suspected of having Marfan syndrome and related conditions

Comparison

Revised diagnostic criteria vs 1986 Berlin nosology

Design

Guideline

Authors

APAnne De PaepeGhent University HospitalRDRichard B. DevereuxBoston University
Harry C. Dietz
Harry C. DietzPediatric / Congenital Cardiology

Discussion

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Implication

Revised criteria should guide Marfan syndrome diagnosis; extends prior nosology by integrating molecular testing and stricter clinical thresholds.

Structured PICO

What are the revised diagnostic criteria for Marfan syndrome?

P
Population
Individuals suspected of having Marfan syndrome and related conditions
I
Intervention
Revised diagnostic criteria (including molecular analysis and updated skeletal criteria)
C
Comparator
1986 Berlin nosology
O
Outcome
Diagnosis of Marfan syndrome

This paper establishes updated diagnostic criteria for Marfan syndrome, incorporating molecular testing and refining clinical manifestations.

Cite This Study

Paepe et al. (1996) studied this question.

synapsesocial.com/papers/6a00a6dc581c6e761e77cf25https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<417::aid-ajmg15>3.0.co;2-r
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Inheritance of Mitral Valve Prolapse: Effect of Age and Sex on Gene Expression1982 · 253 citations
  2. 2Acetabular protrusion in the Marfan syndrome.1987 · 31 citations
  3. 3Association of Mitral Valve Prolapse and Systemic Abnormalities of Connective Tissue1989 · 195 citations
  4. 4Principles and Practice of Medical Genetics.1991 · 291 citations
  5. 5A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome1994 · 126 citations