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Ultrasonography can reliably detect Roberts\u2010SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.<\/jats:p>","DOI":"10.1002\/ajmg.1320320325","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:28:16Z","timestamp":1118546896000},"page":"390-394","source":"Crossref","is-referenced-by-count":27,"title":["Prenatal detection of Roberts\u2010SC phocomelia syndrome: Report of 2 sibs with characteristic manifestations"],"prefix":"10.1002","volume":"32","author":[{"given":"David B.","family":"Robins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger L.","family":"Ladda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary A.","family":"Thieme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle K.","family":"Boal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","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":"10.1111\/j.1399-0004.1974.tb01652.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273512"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01354.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284811"},{"key":"e_1_2_1_6_1","volume-title":"Limb Malformations","author":"Herrmann J","year":"1969"},{"issue":"3","key":"e_1_2_1_6_2","first-page":"81","journal-title":"BD:OAS"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00489985"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1973.tb128828.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010210"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286860"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.2.116"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240410"},{"key":"e_1_2_1_13_1","first-page":"89","volume-title":"Pathology of the Placenta","author":"Perrin EDVK","year":"1984"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040305"},{"key":"e_1_2_1_15_1","volume-title":"Genetic Aspects of Developmental Pathology","author":"Rehder H","year":"1987"},{"issue":"1","key":"e_1_2_1_15_2","first-page":"131","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02790.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040104"},{"key":"e_1_2_1_18_1","first-page":"1332","article-title":"Abnormalities in the cell\u2010division cycle in Roberts syndrome fibroblasts: A cellular basis for the phenotypic characteristics?","volume":"36","author":"Tomkins DJ","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272196"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb02273.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb02071.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320325","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320325","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T12:45:39Z","timestamp":1697978739000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320325"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1002\/ajmg.1320320325"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320325","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}