{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T10:25:36Z","timestamp":1773829536514,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7580,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The name opsismodysplasia is proposed for a new chondrodysplasia, which was studied in three patients. Clinically, the condition is recognized at birth on the basis of shortness, short hands, and facial abnormalities with a short nose and a depressed bridge of nose. The most characteristic radiographic signs are: very retarded bone maturation; marked shortness of the bones of the hands and of the feet with concave metaphyses; and thin, lamellar vertebral bodies. The growth cartilage studied in one case showed a wide hypertrophic area containing thick connective tissue septa, irregular provisional calcification, and vascular invasion. Type I collagen was detected in the hypertrophic area by immunohistochemical and microchemical tests. The transmission of opsismodysplasia is probably autosomal recessive.<\/jats:p>","DOI":"10.1002\/ajmg.1320190117","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:50:11Z","timestamp":1118519411000},"page":"171-182","source":"Crossref","is-referenced-by-count":42,"title":["Opsismodysplasia: A new type of chondrodysplasia with predominant involvement of the bones of the hand and the vertebrae"],"prefix":"10.1002","volume":"19","author":[{"given":"Pierre","family":"Maroteaux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritta","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Le Marec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude","family":"Moraine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horacio","family":"Lejarraga","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","first-page":"39","volume-title":"Collagen in the Physiology and Pathology of Connective Tissue","author":"Gay S","year":"1978"},{"key":"e_1_2_1_3_1","volume-title":"Maladies Osseuses De L'enfant","author":"Maroteaux P","year":"1982"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00776a005"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)99384-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj1630103"},{"key":"e_1_2_1_7_1","first-page":"119","article-title":"Etude par \u00e9lectrophor\u00e8se sur gel des cha\u00eenes \u03b1 et des CNBr peptides du collag\u00e8ne du cartilage de croissance dans les chondrodysplasies","volume":"19","author":"Stanescu V","year":"1976","journal-title":"Ann G\u00e9n\u00e9t (Paris)"},{"issue":"3","key":"e_1_2_1_8_1","first-page":"1","article-title":"Etude morphologique et biochimique du cartilage de croissance dans les ost\u00e9ochondrodysplasies","volume":"34","author":"Stanescu V","year":"1977","journal-title":"Arch Fr P\u00e9diatr"},{"key":"e_1_2_1_9_1","first-page":"659","article-title":"Microchemical analysis of human tibial growth cartilage in various forms of dwarfism","volume":"69","author":"Stanescu V","year":"1972","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-1759(77)90168-5"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(76)90088-9"},{"key":"e_1_2_1_12_1","volume-title":"A Unique Chondrodysplasia Secondary To A Defect in Chondroosseous Transformation","author":"Zonana J","year":"1977"},{"issue":"3","key":"e_1_2_1_12_2","first-page":"155","article-title":"The National Foundation\u2014March of Dimes","journal-title":"As"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:26:32Z","timestamp":1697761592000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,9]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,9]]}},"alternative-id":["10.1002\/ajmg.1320190117"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190117","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,9]]}}}