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Diagnostic challenges of Marfan syndrome in an XYY young man

Published online by Cambridge University Press:  04 November 2011

Ana Lebreiro ,
Elisabete Martins ,
José Carlos Machado  and
Cassiano Abreu-Lima
Ana Lebreiro*
Affiliation:
Cardiology Department, Hospital São João, Porto, Portugal
Elisabete Martins
Affiliation:
Cardiology Department, Hospital São João, Porto, Portugal Medicine Department, University of Porto Medical School, Porto, Portugal
José Carlos Machado
Affiliation:
Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal
Cassiano Abreu-Lima
Affiliation:
Medicine Department, University of Porto Medical School, Porto, Portugal
*
Correspondence to: Dr Ana Margarida Lebreiro, MD, MsC, Hospital de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal. Tel: +351966895567; Fax: +351225503015; E-mail: [email protected]
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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.

Keywords

Tall staturemolecular diagnosisfibrillin-1 mutations
Type
Brief Report
Information
Cardiology in the Young , Volume 22 , Issue 4 , August 2012 , pp. 466 - 468
Copyright
Copyright © Cambridge University Press 2012

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