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In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle\u2010aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two\/324 patients. Involvement of other internal sites was not observed.<\/jats:p>","DOI":"10.1002\/ajmg.1320320302","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:28:16Z","timestamp":1118532496000},"page":"291-297","source":"Crossref","is-referenced-by-count":439,"title":["Age\u2010related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population"],"prefix":"10.1002","volume":"32","author":[{"given":"Henri","family":"Plauchu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"De Chadar\u00e9vian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Bideau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques\u2010Michel","family":"Robert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1977.00500140055011"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.142.3.7063673"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1962.tb04192.x"},{"key":"e_1_2_1_5_1","first-page":"1057","article-title":"H\u00e9morragie massive r\u00e9c\u00e9divante de la partie distale du tube digestif par t\u00e9langiectasies h\u00e9morragiques h\u00e9r\u00e9ditaires de Rendu\u2013Osler\u2013Weber","volume":"107","author":"Besson A","year":"1977","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_1_6_1","first-page":"85","article-title":"D\u00e9mographie historique et g\u00e9n\u00e9tique des populations: La concentration g\u00e9ographique d'une maladie h\u00e9r\u00e9ditaire rare","volume":"34","author":"Bideau A","year":"1979","journal-title":"Ann Econ Soc Civil"},{"key":"e_1_2_1_7_1","first-page":"127","article-title":"La g\u00e9nopathie de Rendu\u2013Osler dans le Haut Jura. 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