Korean J Pediatr.
2007 Oct;50(10):1018-1023. 10.3345/kjp.2007.50.10.1018.
A case of hereditary hemorrhagic telangiectasia
- Affiliations
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- 1Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. jdparkmd@snu.ac.kr
- KMID: 2279317
- DOI: http://doi.org/10.3345/kjp.2007.50.10.1018
Abstract
- Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.
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