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Distinct abnormalities included lethality at birth, facial anomalies, ear anomalies, symmetrical mesomelic shortness of long bones, fibular agenesis, normal vertebrae, oligosyndactyly of phalanges, congenital heart defect, and cystic or hypoplastic kidney. These cases suggest a new lethal form of recessively inherited fibuloulnar dysostosis with renal anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.1320320403","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:58:35Z","timestamp":1118545115000},"page":"452-456","source":"Crossref","is-referenced-by-count":10,"title":["Lethal form of fibuloulnar A\/hypoplasia with renal abnormalities"],"prefix":"10.1002","volume":"32","author":[{"given":"Nakamichi","family":"Saito","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Kuba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toyoshi","family":"Tsuruta","sequence":"additional","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":"10.1007\/BF00441580"},{"key":"e_1_2_1_3_1","first-page":"457","volume":"26","author":"International Nomenclature of Constitutional Diseases of Bone","year":"1983","journal-title":"Annales De Radiologie"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441485"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/89.4.654"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00330.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250626"},{"key":"e_1_2_1_8_1","first-page":"157","article-title":"Positiver Vaterschaftsnachweis auf Grund erblicher Missbildungen der extremit\u00e4ten","volume":"19","author":"Nievelgelt K","year":"1944","journal-title":"Arch Julius Klaus\u2010Stiftung"},{"key":"e_1_2_1_9_1","first-page":"1149","article-title":"A case of Potter's syndrome associated with CNS anomaly and limb deformity","volume":"14","author":"Nishii O","year":"1984","journal-title":"Shusanki\u2010Igaku"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210102"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1228228"},{"key":"e_1_2_1_12_1","first-page":"645","article-title":"A newly recognized dwarfing syndrome","volume":"117","author":"Robinow M","year":"1969","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00118.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170318"},{"key":"e_1_2_1_15_1","first-page":"309","article-title":"Tetradactylie des deux mains, hypoplasie des deux p\u00e9ron\u00e9s, et hypoplasie scapuloiliaque: Un nouveau syndrome?","volume":"30","author":"Walbaum R","year":"1982","journal-title":"J G\u00e9n\u00e9t Hum"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01705987"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T12:19:28Z","timestamp":1697977168000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,4]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1989,4]]}},"alternative-id":["10.1002\/ajmg.1320320403"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320403","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]]}}}