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Genet."],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy\u2010Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer\u2010Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.<\/jats:p>","DOI":"10.1002\/ajmg.1320390303","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:23:20Z","timestamp":1118546600000},"page":"247-251","source":"Crossref","is-referenced-by-count":25,"title":["Beemer\u2010Langer syndrome with manifestations of an orofaciodigital syndrome"],"prefix":"10.1002","volume":"39","author":[{"given":"Angela E.","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nalini","family":"Doshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynda","family":"Flom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly","family":"Tenenholz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen L.","family":"Filkins","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":"10.1136\/jmg.23.2.116"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.1.65"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280524"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140116"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.189"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.5.346"},{"key":"e_1_2_1_8_1","first-page":"529","volume-title":"Craniosynostosis: Diagnosis, Evaluation and Management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.200"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320202"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140225"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070215"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.5.349"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91573-7"},{"key":"e_1_2_1_15_1","first-page":"1919","article-title":"Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib\u2010polydactyly syndrome spectrum: A clinicopathologic study","volume":"3","author":"Yang SS","year":"1987","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070213"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390302"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:41:03Z","timestamp":1698028863000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1002\/ajmg.1320390303"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390303","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}