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[Pulmonary involvement in Osler-Weber-Rendu syndrome].

Authors: E, Bron-Harlev; B, Zeevi; B Z, Garty;

[Pulmonary involvement in Osler-Weber-Rendu syndrome].

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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Keywords

Adult, Cyanosis, Dyspnea, Humans, Female, Telangiectasia, Hereditary Hemorrhagic, Child, Embolization, Therapeutic, Asthma, Respiratory Function Tests

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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Average
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