Diagnostic challenges of Marfan syndrome in an XYY young man
Cardiology in the Young,
Lebreiro A et al. – 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.