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Marfan syndrome masked by Down syndrome?

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Abstract

Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Although variable expression is known to be present in Marfan syndrome, phenotypic expression of Marfan syndrome in our patient might be masked by the co-occurrence of Down syndrome. (Neth Heart J 2009;17:345–8.)

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Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands

Departments of Cardiology and Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands

Department of Clinical Genetics Academic Medical Center, Amsterdam, the Netherlands

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands

Department of Cardiology, Academic Medical Center, Amsterdam, and Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands

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Vis, J.C., van Engelen, K., Timmermans, J. et al. Marfan syndrome masked by Down syndrome?. NHJL 17, 345–348 (2009). https://doi.org/10.1007/BF03086281

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  • DOI: https://doi.org/10.1007/BF03086281

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