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Diagnostic challenges of Marfan syndrome in an XYY young man
Published online by Cambridge University Press: 04 November 2011
Abstract
Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to establish an appropriate diagnosis, medical follow-up, and genetic counselling.
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- Copyright © Cambridge University Press 2012
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