{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T23:04:55Z","timestamp":1780355095402,"version":"3.54.1"},"reference-count":18,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,4,7]]},"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:p>The case presented here shows the rare diagnosis of fetal otocephaly with lethal prognosis due to impossible airway management after birth. Otocephaly is characterised by fetal agnathia, microstomia and synotia. As in our case, otocephaly is usually not recognised until the third trimester and leads to challenging clinical situations and decision making.<\/jats:p>\n               <jats:p>A woman in her 30s presented to our tertiary hospital at 27 weeks of gestation because of an unexplained polyhydramnios. 3D imaging illustrated the complex syndrome of otocephaly and helped understand the present disease patterns. After premature birth, palliative care was agreed on and the newborn was able to pass away peacefully in the arms of his parents.<\/jats:p>\n               <jats:p>We recommend the implementation of 3D imaging into routine scans for the assessment of the fetal face and ears, especially in situations of unexplained polyhydramnios.<\/jats:p>","DOI":"10.1136\/bcr-2022-249276","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T11:34:21Z","timestamp":1653305661000},"page":"e249276","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Advances in prenatal diagnosis of fetal otocephaly by 3D imaging"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4499-3644","authenticated-orcid":false,"given":"Janis","family":"Kinkel","sequence":"first","affiliation":[{"name":"Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Rduch","sequence":"additional","affiliation":[{"name":"Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9sir\u00e9e","family":"Abgottspon","sequence":"additional","affiliation":[{"name":"Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Fischer","sequence":"additional","affiliation":[{"name":"Obstetrics, Kantonsspital, Sankt Gallen, SG, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,4,22]]},"reference":[{"key":"2025082802244527000_15.4.e249276.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.09.002"},{"key":"2025082802244527000_15.4.e249276.2","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1007\/s00784-020-03443-w","article-title":"Re-focusing on Agnathia-Otocephaly complex","volume":"25","author":"Dubucs","year":"2021","journal-title":"Clin Oral Investig"},{"key":"2025082802244527000_15.4.e249276.3","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<427::AID-AJMG13>3.0.CO;2-5","article-title":"Otocephaly: prenatal diagnosis of a new case and etiopathogenetic considerations","volume":"90","author":"Ibba","year":"2000","journal-title":"Am J Med Genet"},{"key":"2025082802244527000_15.4.e249276.4","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3282f16979"},{"key":"2025082802244527000_15.4.e249276.5","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/ajmg.c.30235","article-title":"Holoprosencephaly and agnathia spectrum: presentation of two new patients and review of the literature","volume":"154C","author":"Kauvar","year":"2010","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025082802244527000_15.4.e249276.6","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/S0278-2391(03)00160-5","article-title":"Otocephaly or agnathia-synotia-microstomia syndrome: report of a case","volume":"61","author":"O'neill","year":"2003","journal-title":"J Oral Maxillofac Surg"},{"key":"2025082802244527000_15.4.e249276.7","unstructured":"Katsanis SH , Jabs EW , et al . Treacher Collins Syndrome. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 2004: 1993\u20132021."},{"key":"2025082802244527000_15.4.e249276.8","first-page":"209","article-title":"Pathogenesis of cleft palate in Treacher Collins, Nager, and Miller syndromes","volume":"26","author":"Sulik","year":"1989","journal-title":"Cleft Palate J"},{"key":"2025082802244527000_15.4.e249276.9","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/j.tripleo.2003.11.018","article-title":"Nager syndrome (preaxial acrofacial dysostosis): a case report","volume":"97","author":"Kavadia","year":"2004","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"2025082802244527000_15.4.e249276.10","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1002\/uog.9009","article-title":"Agnathia-otocephaly with holoprosencephaly on prenatal three-dimensional ultrasound","volume":"37","author":"Chaoui","year":"2011","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2025082802244527000_15.4.e249276.11","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1111\/j.1447-0756.2008.00904.x","article-title":"Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly","volume":"34","author":"Tantbirojn","year":"2008","journal-title":"J Obstet Gynaecol Res"},{"key":"2025082802244527000_15.4.e249276.12","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/pd.1709","article-title":"Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly","volume":"27","author":"Ducarme","year":"2007","journal-title":"Prenat Diagn"},{"key":"2025082802244527000_15.4.e249276.13","first-page":"377","article-title":"Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report","volume":"16","author":"Hisaba","year":"2014","journal-title":"Med Ultrason"},{"key":"2025082802244527000_15.4.e249276.14","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.21037\/tp-21-235","article-title":"Agnathia-otocephaly complex diagnosed by prenatal ultrasound: a case report","volume":"10","author":"Ji","year":"2021","journal-title":"Transl Pediatr"},{"key":"2025082802244527000_15.4.e249276.15","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8831"},{"key":"2025082802244527000_15.4.e249276.16","first-page":"E13","article-title":"AIUM-ACR-ACOG-SMFM-SRU practice parameter for the performance of standard diagnostic obstetric ultrasound examinations","volume":"37","year":"2018","journal-title":"J Ultrasound Med"},{"key":"2025082802244527000_15.4.e249276.17","unstructured":"Guidelines for the performance of second (mid) trimester ultrasound, revised 2018, ASUM (Australasian Society for ultrasound in medicine)."},{"key":"2025082802244527000_15.4.e249276.18","doi-asserted-by":"crossref","first-page":"B2","DOI":"10.1016\/j.ajog.2018.07.016","article-title":"SMFM Consult Series #46: Evaluation and management of polyhydramnios","volume":"219","author":"Dashe","year":"2018","journal-title":"Am J Obstet Gynecol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:24:58Z","timestamp":1756373098000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":18,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4,22]]},"published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1136\/bcr-2022-249276"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249276","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4]]}}}