Osler-Weber-Rendu syndrome


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Osler-Weber-Rendu syndrome

[ōs′lər web′ər rando̅o̅′]
Etymology: William Osler; Frederick P. Weber, British physician, 1863-1962; Henri J.L.M. Rendu, French physician, 1844-1902
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Osler-Weber-Rendu syndrome

Osler-Weber-Rendu syndrome

Hereditary hemorrhagic telangiectasia, hereditary multiple aneurysmal telangiectasia Genetics An AD vasculopathy, which may lead to massive episodic hemorrhage Clinical Affected children develop reddish telangiectasias on the lips, tongue, nasal mucosa, face and ears; vascular defects also occur in the throat, larynx, GI tract, liver, bladder, vagina, and brain, where it may result in hemorrhage, causing seizures or death; early signs include frequent nosebleeds in children; the characteristic telangiectasias on the tongue and lips may be delayed until puberty. See Vasculopathy.
References in periodicals archive ?
AVM should be investigated using contrast-enhanced radiologic studies in internal organs, if necessary and the diagnosis of Osler-Weber-Rendu syndrome should be excluded.
Osler-Weber-Rendu syndrome is an autosomal dominant vascular dysplasia defined in 1864 for the first time and shown to be familial, to be characterized by telangiectases and to lead mucosal bleeding by Rendu, Osler and Weber, respectively (1-3).
We could not find an association of ARF and Osler-Weber-Rendu syndrome in the literature.