{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T16:03:22Z","timestamp":1765382602281,"version":"3.40.5"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T00:00:00Z","timestamp":1743984000000},"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":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Rubinstein\u2010Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant disorder characterized by craniofacial dysmorphism, broad halluces and thumbs, variable structural abnormalities and intellectual disability. It is caused by a pathogenic variant in the <jats:italic>CREBBP<\/jats:italic> or <jats:italic>EP300<\/jats:italic> genes. Although distinctive features are described, prenatal diagnosis is rare. We report five prenatally diagnosed cases of RSTS, all with brain abnormalities. On neurosonography, corpus callosum abnormalities were found in 3\/5 cases. The remaining two cases had abnormal posterior fossas, one with vermian hypoplasia and the other with Dandy\u2010Walker malformation (DWM). A <jats:italic>CREBBP<\/jats:italic> gene mutation was identified in all cases\u2014two on microarray (CMA) and three on Trio\u2010whole\u2010exome\u2010sequencing (Trio\u2010WES). This report will allow for a better understanding of the fetal brain findings associated with RSTS.<\/jats:p>","DOI":"10.1002\/pd.6786","type":"journal-article","created":{"date-parts":[[2025,4,8]],"date-time":"2025-04-08T04:18:25Z","timestamp":1744085905000},"page":"686-692","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Brain Abnormalities in Prenatally Diagnosed Rubinstein\u2010Taybi Syndrome"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9181-3095","authenticated-orcid":false,"given":"Laurence S.","family":"Carmant","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology Division of Maternal Fetal Medicine Mount Sinai Hospital University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elka","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology The Hospital for Sick Children University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Blaser","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology The Hospital for Sick Children University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Shannon","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Mount Sinai Hospital University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Chong","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto Canada"},{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology Mount Sinai Hospital  Toronto Canada"},{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6352-4846","authenticated-orcid":false,"given":"Shiri","family":"Shinar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Division of Maternal Fetal Medicine Mount Sinai Hospital University of Toronto  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1963.02080040590010"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370604"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370605"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201594"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20103\u2010319\u201053889\u20101_3"},{"key":"e_1_2_8_7_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Stevens C. 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