Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures
✍ Scribed by Haneen Sadick; Maliha Sadick; Karl Götte; Ramin Naim; Frank Riedel; Gregor Bran; Karl Hörmann
- Publisher
- Springer Vienna
- Year
- 2006
- Tongue
- English
- Weight
- 372 KB
- Volume
- 118
- Category
- Article
- ISSN
- 0043-5325
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We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, se- lected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum pe
Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis