{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:47:54Z","timestamp":1790621274222,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,26]],"date-time":"2020-06-26T00:00:00Z","timestamp":1593129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Baraitser\u2010Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes <jats:italic>ACTB<\/jats:italic> or <jats:italic>ACTG1<\/jats:italic>. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in <jats:italic>ACTB<\/jats:italic> was detected, c.1004G&gt;A (p.Arg335His), conferring a diagnosis of BWCFF.<\/jats:p>","DOI":"10.1002\/ajmg.a.61725","type":"journal-article","created":{"date-parts":[[2020,6,26]],"date-time":"2020-06-26T08:30:37Z","timestamp":1593160237000},"page":"2124-2128","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal presentation and diagnosis of <scp>Baraitser\u2010Winter<\/scp> syndrome using exome sequencing"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1086-3531","authenticated-orcid":false,"given":"Kermit","family":"Zhang","sequence":"first","affiliation":[{"name":"Virginia Tech Carilion School of Medicine  Roanoke Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleina","family":"Cox","sequence":"additional","affiliation":[{"name":"Fulgent Genetics  Temple City California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Strom","sequence":"additional","affiliation":[{"name":"Fulgent Genetics  Temple City California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo Luan","family":"Xu","sequence":"additional","affiliation":[{"name":"Fulgent Genetics  Temple City California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Disilvestro","sequence":"additional","affiliation":[{"name":"Virginia Tech Carilion School of Medicine  Roanoke Virginia USA"},{"name":"Maternal Fetal Medicine Carilion Clinic  Roanoke Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Usrey","sequence":"additional","affiliation":[{"name":"Virginia Tech Carilion School of Medicine  Roanoke Virginia USA"},{"name":"Maternal Fetal Medicine Carilion Clinic  Roanoke Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000266"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.1.41"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.006"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00003"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37771"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.130"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4675"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.041970"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.10.005"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.460"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.12506"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00002"},{"key":"e_1_2_10_14_1","unstructured":"Online Mendelian Inheritance in Man OMIM (TM). 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