{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:22:54Z","timestamp":1784542974021,"version":"3.55.0"},"reference-count":20,"publisher":"BMJ","issue":"10","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"unspecified","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,28]]},"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>We report the case of a male infant born at 37 weeks and 4 days of gestation with a birth weight of 3396 g. He presented with hypotonia, congenital heart disease, heterotaxy and polydactyly. Based on physical examination and brain MRI, which revealed the characteristic molar tooth sign, he was diagnosed with Joubert syndrome and related disorders (JSRD). He experienced repeated episodes of atelectasis, making extubation challenging. Electron microscopy revealed ciliary structural abnormalities, leading to the diagnosis of primary ciliary dyskinesia as well as JSRD. Despite multiple medical interventions and two surgical procedures for heart failure, he died at 10 months old due to progressing chronic heart failure and pulmonary infections.<\/jats:p>\n                  <jats:p>This report presents the course leading to the diagnosis of ciliary dysfunction-associated multiple malformations, based on the diverse symptoms. Furthermore, we discuss the potential risk of postoperative complications associated with ciliary dysfunction.<\/jats:p>","DOI":"10.1136\/bcr-2025-267389","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T08:30:20Z","timestamp":1761208220000},"page":"e267389","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease"],"prefix":"10.1136","volume":"18","author":[{"given":"Io","family":"Kumasaka","sequence":"first","affiliation":[{"name":"Department of Development and Environmental Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi Prefecture, Japan"},{"name":"Department of Pediatrics, Tohoku University Hospital, Sendai, Miyagi Prefecture, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanita","family":"Takushi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University Hospital, Sendai, Miyagi Prefecture, Japan"},{"name":"Department of Neonatology, Miyagi Children\u2019s Hospital, Sendai, Miyagi Prefecture, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Miyagi Children\u2019s Hospital, Sendai, Miyagi Prefecture, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0644-1144","authenticated-orcid":false,"given":"Chiharu","family":"Ota","sequence":"additional","affiliation":[{"name":"Department of Development and Environmental Medicine, Tohoku University Graduate School of Medicine, Sendai, Miyagi Prefecture, Japan"},{"name":"Department of Pediatrics, Tohoku University Hospital, Sendai, Miyagi Prefecture, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,10,23]]},"reference":[{"key":"2025102301300985000_18.10.e267389.1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201648"},{"key":"2025102301300985000_18.10.e267389.2","doi-asserted-by":"publisher","DOI":"10.1086\/519026"},{"key":"2025102301300985000_18.10.e267389.3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70136-4"},{"key":"2025102301300985000_18.10.e267389.4","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/ajmg.c.30229","article-title":"Clinical and molecular features of Joubert syndrome and related disorders","volume":"151C","author":"Parisi","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025102301300985000_18.10.e267389.5","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00176608"},{"key":"2025102301300985000_18.10.e267389.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2015.09.003"},{"key":"2025102301300985000_18.10.e267389.7","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.649038"},{"key":"2025102301300985000_18.10.e267389.8","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"2025102301300985000_18.10.e267389.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.008"},{"key":"2025102301300985000_18.10.e267389.10","doi-asserted-by":"crossref","DOI":"10.1186\/s40248-015-0015-2","article-title":"Kartagener\u2019s syndrome: review of a case series","volume":"10","author":"Ciancio","year":"2015","journal-title":"Multidiscip Respir Med"},{"key":"2025102301300985000_18.10.e267389.11","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.anl.2015.09.012","article-title":"Recent advances in primary ciliary dyskinesia","volume":"43","author":"Takeuchi","year":"2016","journal-title":"Auris Nasus Larynx"},{"key":"2025102301300985000_18.10.e267389.12","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.911","article-title":"The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia","volume":"7","author":"Hannah","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"2025102301300985000_18.10.e267389.13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12013"},{"key":"2025102301300985000_18.10.e267389.14","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105918"},{"key":"2025102301300985000_18.10.e267389.15","first-page":"94","article-title":"Joubert syndrome with atrial septal defect and persistent left superior vena cava","volume":"13","author":"Elmali","year":"2007","journal-title":"Diagn Interv Radiol"},{"key":"2025102301300985000_18.10.e267389.16","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807300303"},{"key":"2025102301300985000_18.10.e267389.17","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"2025102301300985000_18.10.e267389.18","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1378\/chest.14-0722","article-title":"Primary ciliary dyskinesia and the heart: cilia breaking symmetry","volume":"146","author":"Kennedy","year":"2014","journal-title":"Chest"},{"key":"2025102301300985000_18.10.e267389.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2006.07.053"},{"key":"2025102301300985000_18.10.e267389.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2010.07.082"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-267389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T08:30:22Z","timestamp":1761208222000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-267389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":20,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2025,10,23]]},"published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1136\/bcr-2025-267389"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-267389","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]}}}