{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T09:10:01Z","timestamp":1697706601958},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T00:00:00Z","timestamp":1269561600000},"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":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two stillborn male sibling fetuses born to the same parents had severe mesomelic dysplasia documented at ultrasound and confirmed by radiography and autopsy. The 17\u2010week\u2010old fetus with increased neck translucency had additional heart and great vessel anomalies consistent with tetralogy of Fallot. The 15\u2010week\u2010old fetus had a nuchal cystic hygroma. We posit that these sibs have a distinct, previously unreported skeletal dysplasia. The mode of genetic transmission could be autosomal recessive or X\u2010linked recessive. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33328","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T18:20:44Z","timestamp":1269627644000},"page":"815-818","source":"Crossref","is-referenced-by-count":0,"title":["Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other"],"prefix":"10.1002","volume":"152A","author":[{"given":"Jan","family":"Vseticka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzana","family":"Gattnarova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo","family":"Marik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Kozlowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,3,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199403313301302"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441485"},{"key":"e_1_2_5_4_1","first-page":"306","article-title":"Dwarfism in the Amish. I. The Ellis\u2013van Creveld syndrome","volume":"115","author":"McKusick VA","year":"1964","journal-title":"Bull Johns Hopkins Hosp"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2004.04.005"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(94)70142-3"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090712"},{"key":"e_1_2_5_8_1","first-page":"81","article-title":"Nievergelt syndrome (mesomelic dwarfism\u2010type Nievergelt)","volume":"10","author":"Young LW","year":"1974","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.33328","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33328","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:24:15Z","timestamp":1697639055000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33328"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,26]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1002\/ajmg.a.33328"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33328","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,26]]}}}