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After sonographic diagnosis of the bilateral cleft lip and palate and the persistent open eyelids, amniocentesis with subsequent molecular genetics confirmed the sonographically presumed de-novo mutation of the CDH1 gene and the Blepharo-Cheilo-Dontic Syndrome. After multidisciplinary counseling the patients termined the pregnancy.<\/jats:p>","DOI":"10.1007\/s00404-025-08268-0","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T05:19:48Z","timestamp":1768972788000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal diagnosis of Blepharo-Cheilo-Dontic syndrome: a case report"],"prefix":"10.1007","volume":"313","author":[{"given":"A.","family":"Rejaey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Berg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Reuss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Gottschalk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"8268_CR1","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1136\/jmedgenet-2018-105807","volume":"56","author":"J Figueiredo","year":"2019","unstructured":"Figueiredo J, Melo S, Carneiro P et al (2019) Clinical spectrum and pleiotropic nature of CDH1 germline mutations. 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Am J Ophthalmol 132:279\u2013280. https:\/\/doi.org\/10.1016\/S0002-9394(01)00926-6","journal-title":"Am J Ophthalmol"},{"key":"8268_CR3","doi-asserted-by":"publisher","first-page":"1180381","DOI":"10.3389\/fped.2023.1180381","volume":"11","author":"X Zhao","year":"2023","unstructured":"Zhao X, Li X, Sun W et al (2023) Case report: \u201cMajor fetal cardiac pathology associated with a novel CTNND1 mutation.\u201d Front Pediatr 11:1180381. https:\/\/doi.org\/10.3389\/fped.2023.1180381","journal-title":"Front Pediatr"}],"container-title":["Archives of Gynecology and Obstetrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-025-08268-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00404-025-08268-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00404-025-08268-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T05:19:50Z","timestamp":1768972790000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00404-025-08268-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,21]]},"references-count":3,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["8268"],"URL":"https:\/\/doi.org\/10.1007\/s00404-025-08268-0","relation":{},"ISSN":["1432-0711"],"issn-type":[{"value":"1432-0711","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,21]]},"assertion":[{"value":"8 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 January 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"57"}}