单词 | osler-weber-rendu syndrome |
释义 | Osler-Weber-Rendu syndromeOsler-Weber-Rendu syndromeHereditary 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. |
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