Diagnostic challenges of Marfan syndrome in an XYY young man
Ana Lebreiro1, Elisabete Martins, José Carlos Machado
1Cardiology Department, Hospital de São João, Porto, Portugal. ana.lebreiro@gmail.com
Cardiology in the Young
|November 5, 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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