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Genet."],"published-print":{"date-parts":[[1986,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We address the confusion in the current classification of inherited disorders of collagen and the excessive extension of the concept of the Ehlers\u2010Danlos \u201esyndrome\u201d\ufe01 that tends to cover many facts and conditions frequently without strong clinical connection.<\/jats:p><jats:p>We propose to subdivide the collagen disorders into four main classes depending on whether skin, joints, bone, or blood vessels are mainly involved. The class with mainly skin involvement includes the different forms of cutis laxa, Ehlers\u2010Danlos syndrome types I and II (autosomal dominant), types V and IX (X\u2010linked recessive), type VI (autosomal recessive), and type VIII (autosomal dominant). The group with mainly articular involvement includes Larsen and related syndromes and other types with a more benign course. The conditions with mainly skeletal involvement include the different forms of osteogenesis imperfecta. The class with mainly blood vessel involvement includes disorders of type III collagen and the Marfan syndrome.<\/jats:p><jats:p>This tentative classification proposes a logical clinical framework that will allow easier integration of molecular biology data.<\/jats:p>","DOI":"10.1002\/ajmg.1320240203","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:04:43Z","timestamp":1118520283000},"page":"219-230","source":"Crossref","is-referenced-by-count":11,"title":["The differential symptomatology of errors of collagen metabolism: A tentative classification"],"prefix":"10.1002","volume":"24","author":[{"given":"Pierre","family":"Maroteaux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Fr\u00e9zal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lola","family":"Cohen\u2010Solal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1980.03310020020019"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.28.3.228"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198110223051705"},{"key":"e_1_2_1_5_1","first-page":"148","article-title":"Cutis laxa","volume":"150","author":"Brown FR","year":"1982","journal-title":"Johns Hopkins Med J"},{"key":"e_1_2_1_6_1","volume-title":"Lethal mutations in Type I collagen: Structure\u2010function relationships in the Type I collagen molecule","author":"Byers PH","year":"1984"},{"issue":"3","key":"e_1_2_1_6_2","first-page":"65","journal-title":"BD:OAS"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198007103030201"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.12.7745"},{"key":"e_1_2_1_9_1","first-page":"573","article-title":"Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs","volume":"23","author":"Desbuquois G","year":"1966","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"7721","DOI":"10.1016\/S0021-9258(18)32239-7","article-title":"Synthesis of a shortened pro \u03b12(I) chain and decreased synthesis of pro\u2010\u03b12(I) chains in a proband with osteogenesis imperfecta","volume":"258","author":"de Wet WJ","year":"1983","journal-title":"J Biol Chem"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"663","DOI":"10.2106\/00004623-195840030-00015","article-title":"Arthrochalasis multiplex congenita, congenital flacidity of the joints","volume":"40","author":"Hass J","year":"1958","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060306"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780230914"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.69.10.2899"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(50)80268-8"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008208209160271"},{"key":"e_1_2_1_17_1","volume-title":"Mendelian Inheritance in Man. 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