Definition and Correlation of Syndromes Related to Congenital Vascular Malformations
2015
The syndromes represent an important chapter of vascular malformations because they are recognized in the classification of rare diseases. The syndromes are usually named with eponyms, and this brought some confusion in the classification of vascular malformations. We are aware that we could classify these syndromes according to the involved vessels, but the clinical spectrum and the evolution of the disease are better specified with the use of the eponyms particularly regarding the necessity of tumor screening like in Maffucci and PTEN anomalies. Another important chapter considers Rendu-Osler syndromes with the possible evolution of liver, lung, and brain AV shunts.
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