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Abstract: A case of hereditary hemorrhagic telangiectasia was reported.Repeated hemorrhage in nasal and digestive system are main clinical manifestation.Capillary expanded on tongue and finger is the main physical sign. Main clinical manifestation and typical physical signs, combined with family history, can help to establish a diagno- sis.
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Key words:
- telangiectasia /
- hereditary hemorrhagic /
- epistaxis
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[1] SHOVLIN C L, GUTTMACHER A E, BUSCARINI E, et al.Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-osler-Weber syndrome)[J].Am J Med Genet, 2000, 91:66-67.
[2] PAU H, CARNEY A S, MURTY G E.Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome):otorhinolaryngological manifestations[J].Clin Otolaryngol Allied Sci, 2001, 26:93-98.
[3] DAKEISHI M, SHIOYA T, WADA Y, et al.Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan[J].Hum Mutat, 2002, 19:140-148.
[4] 何明强, 刘亦青, 许彤, 等.鼻内镜下鼻腔皮成形术治疗遗传性出血性毛细血管扩张症所致严重鼻出血[J].中华耳鼻咽喉头颈外科杂志, 2008, 43 (9):703-704.
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