{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969409},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5909,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of achondrogenesis type III, and three cases of achondrogenesis type IV were found. Two cases were unclassifiable due to lack of radiographs. In total, the point prevalence at birth was 15.4 per 100,000. Thus lethal Osteochondrodysplasias seem to be more common than is generally assumed.<\/jats:p><jats:p>The clinical and radiographic findings in micromelic bone dysplasia with cloverleaf skull are discussed in relation to thanatophoric dysplasia and achondrogenesis type IV.<\/jats:p>","DOI":"10.1002\/ajmg.1320320411","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:58:35Z","timestamp":1118545115000},"page":"484-489","source":"Crossref","is-referenced-by-count":23,"title":["Prevalence of lethal osteochondrodysplasias in Denmark"],"prefix":"10.1002","volume":"32","author":[{"suffix":"Jr.","given":"Poul Erik","family":"Andersen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-54-637-61"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1970.tb02926.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00542847"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-48307-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00355114"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220404"},{"key":"e_1_2_1_8_1","first-page":"598","article-title":"Thanatophorer Zwergwuchs","volume":"26","author":"Frahm R","year":"1986","journal-title":"Radiologe"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1971.tb00257.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00972730"},{"key":"e_1_2_1_11_1","first-page":"896","article-title":"Thanatophoric dysplasia with cloverleaf skull","volume":"137","author":"Isaacson G","year":"1983","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4471-3320-9"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388364"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1987.tb01838.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442186"},{"key":"e_1_2_1_16_1","first-page":"2519","article-title":"Le nanisme thanatophore","volume":"75","author":"Maroteaux P","year":"1967","journal-title":"Presse Med"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.328"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1542\/peds.51.1.104","article-title":"The genetics of thanatophoric dwarfism","volume":"51","author":"Pena SDJ","year":"1973","journal-title":"Pediatrics"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.3.243"},{"key":"e_1_2_1_20_1","volume-title":"Bone Dysplasias. An Atlas of Constitutional Disorders of Skeletal Development","author":"Spranger JW","year":"1974"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.148.3.6878687"},{"key":"e_1_2_1_22_1","volume-title":"Atlas of Skeletal Dysplasias","author":"Wynne\u2010Davies R","year":"1985"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T12:18:58Z","timestamp":1697977138000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,4]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1989,4]]}},"alternative-id":["10.1002\/ajmg.1320320411"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320411","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,4]]}}}