{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:07:03Z","timestamp":1791032823621,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2006,8,4]],"date-time":"2006-08-04T00:00:00Z","timestamp":1154649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arthrogryposis multiplex congenita is a heterogeneous group of disorders characterized by multiple contractures with an estimated frequency of 1 in 3,000 births. With improving diagnostic methods, increasing numbers of fetuses with arthrogryposis are found. The pathogenetic mechanisms are relatively well known but the epidemiology and genetics of the prenatally lethal forms of arthrogryposis are less well known. In this study we collected all cases of a multiple contractures diagnosed in Finland during 1987\u20132002 including live born infants, stillbirths, and terminated pregnancies. Ninety\u2010two cases of 214 suffered intrauterine demise (68 selective pregnancy terminations and 24 stillbirths) and 58 died in infancy. In 141 out of these cases the diagnosis could be included within lethal arthrogryposes, with a prevalence of 1 in 6,985 (1.43\/10,000) births. Of these, 59 had spinal cord pathology at autopsy and thus were of neurogenic origin. Thirty\u2010nine cases had lethal congenital contracture syndrome (LCCS) clinically characterized by total immobility of the fetus at all ultrasound examinations (12 weeks or later), multiple joint contractures in both upper and lower limbs, hydrops, and fetal death before the 32nd week of pregnancy. LCCS is noted as a unique Finnish disorder with a prevalence of 1 in 25,250 (0.40\/10,000) births and is a major cause of lethal arthrogryposis in Finland. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31381","type":"journal-article","created":{"date-parts":[[2006,8,5]],"date-time":"2006-08-05T02:17:13Z","timestamp":1154744233000},"page":"1834-1839","source":"Crossref","is-referenced-by-count":64,"title":["Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland\u2014An epidemiological study"],"prefix":"10.1002","volume":"140A","author":[{"given":"Niklas","family":"Pakkasj\u00e4rvi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annukka","family":"Ritvanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riitta","family":"Herva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo","family":"Kestil\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaakko","family":"Ignatius","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,8,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(86)80177-0"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118895"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.121148"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80012-9"},{"key":"e_1_2_5_6_1","first-page":"217","article-title":"X\u2010linked infantile spinal muscular atrophy","volume":"142","author":"Greenberg F","year":"1988","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052430"},{"key":"e_1_2_5_8_1","first-page":"44","article-title":"Genetic aspects of arthrogryposis","volume":"194","author":"Hall JG","year":"1985","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199707000-00002"},{"key":"e_1_2_5_10_1","first-page":"4182","volume-title":"Emery and Rimoin's Principles and Practice of Medical Genetics","author":"Hall JG","year":"2002"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200303"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290109"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1213"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/301968"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0875-3"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10194"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.1991.tb00006.x"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10863"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1754.1998.00296.x"},{"key":"e_1_2_5_21_1","volume-title":"Lethal arthrogryposis in Finland","author":"Vuopala K","year":"1994"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.7.521"},{"key":"e_1_2_5_23_1","first-page":"369","article-title":"Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome","volume":"30","author":"Vuopala K","year":"1996","journal-title":"Birth Defects Orig Artic Ser"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31381","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31381","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T09:48:35Z","timestamp":1700041715000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31381"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,4]]},"references-count":22,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1002\/ajmg.a.31381"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31381","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,4]]}}}