{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T16:02:47Z","timestamp":1765382567707,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,22]],"date-time":"2024-09-22T00:00:00Z","timestamp":1726963200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Rubinstein\u2013Taybi syndrome (RSTS) is a rare syndrome characterized by intellectual disability, distinctive facial features and distal limb abnormalities. RSTS is indicated by clinical features and confirmed via genetic testing. In this prenatal case series, we report four cases of RSTS with various sonographic features. Some features, such as corpus callosum dysgenesis, are nonspecific, but they may be the first sign apparent, as they appear early in pregnancy. Others, like beaked nose, shawl scrotum, premature coccygeal ossification, and overly mature scrotal sac with excessive rugae, are distinctive, but they may only be apparent in advanced gestation.<\/jats:p>","DOI":"10.1002\/pd.6668","type":"journal-article","created":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T01:10:01Z","timestamp":1727053801000},"page":"1502-1508","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal Sonographic Features of Rubinstein\u2013Taybi Syndrome\u2014A Small Case Series of a Rare Syndrome"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6365-3741","authenticated-orcid":false,"given":"K.","family":"Zloto","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital Sheba Medical Center  Tel\u2010Hashomer Israel"},{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5558-7871","authenticated-orcid":false,"given":"T.","family":"Weissbach","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital Sheba Medical Center  Tel\u2010Hashomer Israel"},{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Messing","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital Sheba Medical Center  Tel\u2010Hashomer Israel"},{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Birnbaum","sequence":"additional","affiliation":[{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Obstetrics &amp; Gynecology Unit Lis Maternity Hospital Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7827-1922","authenticated-orcid":false,"given":"L.","family":"Gindes","sequence":"additional","affiliation":[{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Obstetrics and Gynecology Unit, Edith Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2915-3732","authenticated-orcid":false,"given":"M.","family":"Levy","sequence":"additional","affiliation":[{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Obstetrics and Gynecology Unit, Edith Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Obstetrics and Gynecology Unit, Edith Wolfson Medical Center  Holon Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Hadi","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital Sheba Medical Center  Tel\u2010Hashomer Israel"},{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Eliyahu","sequence":"additional","affiliation":[{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center  Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Feinstein\u2010Goren","sequence":"additional","affiliation":[{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center  Tel\u2010Hashomer Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Kassif","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Ultrasound Unit of the Maternity Hospital Sheba Medical Center  Tel\u2010Hashomer Israel"},{"name":"School of Medicine Faculty of Medical and Health Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1963.02080040590010"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010015\u20100110\u20101"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201594"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010019\u201001985\u2010y"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32424"},{"issue":"2","key":"e_1_2_10_7_1","first-page":"81","article-title":"Rubinstein\u2013Taybi Syndrome. 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