{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T19:35:41Z","timestamp":1757619341004,"version":"3.44.0"},"reference-count":3,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T00:00:00Z","timestamp":1753488000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T00:00:00Z","timestamp":1753488000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"DOI":"10.1186\/s12887-025-05949-2","type":"journal-article","created":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T03:11:43Z","timestamp":1753499503000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Extremely rare case report of CEBALID syndrome presenting as congenital arthrogryposis"],"prefix":"10.1186","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3496-0988","authenticated-orcid":false,"given":"Fatima A.","family":"Dirani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghina","family":"Kahil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7979-4372","authenticated-orcid":false,"given":"Rida","family":"Jaber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahraa","family":"Slim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rabab","family":"El Hajj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imad","family":"Chokr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,7,26]]},"reference":[{"key":"5949_CR1","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1093\/brain\/awz379","volume":"143","author":"CCY Mak","year":"2020","unstructured":"Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, et al. MN1 c-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020;143:55\u201368.","journal-title":"Brain"},{"issue":"1","key":"5949_CR2","first-page":"12","volume":"12","author":"B Kowalczyk","year":"2016","unstructured":"Kowalczyk B, Felu\u015b J. Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Arch Med Sci. 2016;12(1):12\u201324.","journal-title":"Arch Med Sci"},{"key":"5949_CR3","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.j2563","author":"M Persson","year":"2017","unstructured":"Persson M, Cnattingius S, Villamor E, S\u00f6derling J, Pasternak B, Stephansson O, et al. Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons. BMJ. 2017. https:\/\/doi.org\/10.1136\/bmj.j2563.","journal-title":"BMJ"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-025-05949-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-025-05949-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-025-05949-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,7]],"date-time":"2025-09-07T16:57:38Z","timestamp":1757264258000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-025-05949-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,26]]},"references-count":3,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["5949"],"URL":"https:\/\/doi.org\/10.1186\/s12887-025-05949-2","relation":{},"ISSN":["1471-2431"],"issn-type":[{"type":"electronic","value":"1471-2431"}],"subject":[],"published":{"date-parts":[[2025,7,26]]},"assertion":[{"value":"17 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 July 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Ethical approval of all clinical procedures, including genetic testing, was obtained from the Ethics Committee of Rafik Hariri University Hospital. Written informed consent for participation and publication of clinical details was obtained from the parents of the newborn.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"A written informed consent for publishing the images and information was obtained from the parents of the newborn, and is available upon request.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"572"}}