Osler-Weber-Rendu syndrome | definition of Osler-Weber-Rendu syndrome by Medical dictionary
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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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive
Based on the above findings (fulfills three criteria of HHT), the man is a definite case of Osler-Weber-Rendu syndrome
(HHT) with PAVM treated by wedge resection.
The diagnostis criteria in Osler-Weber-Rendu syndrome
include spontaneous recurring epistaxis, mucocutaneous telengiectasies, AVM's in the internal organs and presence of Osler-Weber-Rendu syndrome
in the first-degree relatives.
Hereditary hemorrhagic telangiectasia (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).
The presence of multiple abnormalities increases the likelihood of an underlying disorder such as hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome