Diagnostic challenges of Marfan syndrome in an XYY young man

• Type: Article in International Scientific Journal
• Date: 2012

Authors

Ana Lebreiro (Author) Other; Elisabete Martins (Author) FMUP; Jose Carlos Machado (Author) FMUP; Cassiano Abreu Lima (Author) Other

Journal

Title: Cardiology in the Young

Vol. 22

Pages: 466-468

ISSN: 1047-9511

Publisher: Cambridge University Press

Indexing

ISI Web of Knowledge - 1 Citation

Scopus - 2 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-002-7CP

DOI: 10.1017/s1047951111001776

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3