{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T05:39:35Z","timestamp":1771911575278,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T00:00:00Z","timestamp":1699228800000},"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":["J of Ultrasound Medicine"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.<\/jats:p>","DOI":"10.1002\/jum.16354","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T10:25:16Z","timestamp":1699266316000},"page":"411-414","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal Diagnosis of Primrose Syndrome"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6322-048X","authenticated-orcid":false,"given":"Wael","family":"Abdallah","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine CHI Poissy St Germain\u2010en\u2010Laye  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Spaggiari","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine Necker\u2010Enfants Malades Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Brisset","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique Centre hospitalier de Versailles  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodolphe","family":"Dard","sequence":"additional","affiliation":[{"name":"Genetics Department CHI Poissy St Germain\u2010en\u2010Laye  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Atti\u00e9 Bitach","sequence":"additional","affiliation":[{"name":"M\u00e9decine g\u00e9nomique des Maladies rares Necker\u2010Enfants Malades Hospital, AP\u2010HP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Philippe","family":"Bault","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine CHI Poissy St Germain\u2010en\u2010Laye  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thibault","family":"Quibel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Maternal\u2010Fetal Medicine CHI Poissy St Germain\u2010en\u2010Laye  Poissy France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61024"},{"key":"e_1_2_4_3_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Arora V","year":"1993"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e8e754"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3035"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13749"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61297"},{"key":"e_1_2_4_8_1","unstructured":"Primrose Syndrome \u2013 About the Disease \u2013 Genetic and Rare Diseases Information Center [Internet].https:\/\/rarediseases.info.nih.gov\/diseases\/4488\/primrose-syndrome. 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