{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T07:25:42Z","timestamp":1763018742974,"version":"3.41.2"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,5,24]],"date-time":"2024-05-24T00:00:00Z","timestamp":1716508800000},"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":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Baraitser\u2013Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non\u2010immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in <jats:italic>ACTB<\/jats:italic> (c.158A&gt;G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in <jats:italic>ACTB<\/jats:italic> (c.826G&gt;A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63719","type":"journal-article","created":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T01:28:51Z","timestamp":1716600531000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expansion of the prenatal phenotype of <scp>Baraitser\u2013Winter<\/scp> syndrome: Presentation of two cases of multiple congenital anomaly syndrome"],"prefix":"10.1002","volume":"194","author":[{"given":"Natalie","family":"Burrill","sequence":"first","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2645-6767","authenticated-orcid":false,"given":"Haley","family":"Crane","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nahla","family":"Khalek","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shelly","family":"Soni","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. Taylor","family":"Wild","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Neonatology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cara","family":"Skraban","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morgan","family":"McManus","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Szigety","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward R.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Radiology Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Partridge","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Pediatric General, Thoracic and Fetal Surgery Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonika","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Division of Neurology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan","family":"Fisher","sequence":"additional","affiliation":[{"name":"Variantyx, Inc.  Framingham Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Genomic Diagnostics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pathology and Laboratory Medicine Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie S.","family":"Moldenhauer","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment  Philadelphia Pennsylvania USA"},{"name":"Department of Surgery Perelman School of Medicine at the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,24]]},"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":"10.1155\/2017\/9184265"},{"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":"10.1038\/ejhg.2013.130"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4675"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12854"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06713-0"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-019-5866-z"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104318"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/504271"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1091"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689-018-9235-z"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200575"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13358"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61725"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63719","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T01:02:25Z","timestamp":1743901345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63719"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,24]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ajmg.a.63719"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63719","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,5,24]]},"assertion":[{"value":"2024-02-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-05-24","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63719"}}