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01.09.2009 | Case report | Ausgabe 9/2009

Netherlands Heart Journal 9/2009

Marfan syndrome masked by Down syndrome?

Zeitschrift:
Netherlands Heart Journal > Ausgabe 9/2009
Autoren:
J. C. Vis, K. van Engelen, J. Timmermans, B. C. Hamel, B. J. M. Mulder
Wichtige Hinweise
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

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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