Key result
Incorporating genotype information changed the final diagnosis of Marfan syndrome in 22 persons using Ghent-1 criteria and 32 persons using Ghent-2 criteria, demonstrating its essential role.
Why the study?
Does combined genotype and phenotype information improve the diagnosis or exclusion of Marfan syndrome compared to phenotype alone in referred patients?
Cross-Sectional (n=300)
Does combined genotype and phenotype information improve the diagnosis or exclusion of Marfan syndrome compared to phenotype alone in referred patients?
Genotype information is essential for the accurate diagnosis or exclusion of Marfan syndrome, as it alters the final diagnosis in a substantial number of patients compared to clinical phenotype criteria alone.
No takes yet. Share an insight, caveat, or question.
Genotype may refine Marfan diagnosis beyond phenotype alone; hypothesis-generating and should not yet change practice.
Sheikhzadeh et al. (2011) conducted a cross-sectional in Marfan syndrome (n=300). Genotype information vs. Clinical phenotype criteria alone was evaluated on Change in final diagnosis. Incorporating genotype information changed the final diagnosis of Marfan syndrome in 22 persons using Ghent-1 criteria and 32 persons using Ghent-2 criteria, demonstrating its essential role.
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