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  • Title: [Pulmonary involvement in Osler-Weber-Rendu syndrome].
    Author: Bron-Harlev E, Zeevi B, Garty BZ.
    Journal: Harefuah; 2000 Mar 01; 138(5):362-5, 423. PubMed ID: 10883134.
    Abstract:
    Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a group of autosomal dominant diseases with variable penetration, characterized by vascular malformations. Recently hereditary hemorrhagic telangiectasia has been found to be a phenotypic expression of mutations in genes located on chromosomes 9 and 12, and possibly of other genes located on other chromosomes. We describe 2 patients with hereditary hemorrhagic telangiectasia and pulmonary involvement who presented with repeated complaints of dyspnea and cyanosis and were diagnosed as having long-standing asthma. Both were treated with therapeutic catheterization and embolization with good clinical outcomes.
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