{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T05:20:18Z","timestamp":1767676818940,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,8,3]]},"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with coiled-coil domain containing protein 40 (CCDC40) gene variants in patients with PCD.<\/jats:p>","DOI":"10.1136\/bcr-2018-224964","type":"journal-article","created":{"date-parts":[[2018,9,12]],"date-time":"2018-09-12T10:55:27Z","timestamp":1536749727000},"page":"bcr-2018-224964","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia"],"prefix":"10.1136","volume":"2018","author":[{"given":"Hasan","family":"Ghandourah","sequence":"first","affiliation":[{"name":"Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon D","family":"Dell","sequence":"additional","affiliation":[{"name":"Division of Respiratory Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,9,12]]},"reference":[{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034868"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.2","first-page":"1","article-title":"Whole-exome sequencing identified a novel compound heterozygous mutation of LRRC6 in a Chinese primary ciliary dyskinesia patient","volume":"2018","author":"Liu","year":"2018","journal-title":"Biomed Res Int"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.3","unstructured":"Zariwala MA , Knowles MR , Leigh MW . Primary ciliary dyskinesia. In: InGeneReviews. Seattle: University of Washington, 2015."},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-0808"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.5","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ppul.23304","article-title":"Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review","volume":"51","author":"Shapiro","year":"2016","journal-title":"Pediatr Pulmonol"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.2214\/ajr.143.1.23","article-title":"Radiographic findings in neonatal pneumonia","volume":"143","author":"Haney","year":"1984","journal-title":"AJR Am J Roentgenol"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.7","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2017-210776"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.8","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2009.158493"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.9","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201409-1672OC"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.10","doi-asserted-by":"publisher","DOI":"10.1038\/ng.727"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197901113000201"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.12","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201311-2047OC"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.13","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2013.200"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.14","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01659-2017"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.15","doi-asserted-by":"crossref","first-page":"294","DOI":"10.4066\/AMJ.2014.2102","article-title":"Follicular bronchiolitis in primary ciliary dyskinesia","volume":"7","author":"Thalanayar","year":"2014","journal-title":"Australas Med J"},{"key":"2025082805182368000_2018.sep11_2.bcr-2018-224964.16","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1007\/s00595-016-1434-1","article-title":"Risk factors for thoracic and spinal deformities following lung resection in neonates, infants, and children","volume":"47","author":"Makita","year":"2017","journal-title":"Surg Today"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-224964","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:18:31Z","timestamp":1756383511000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-224964"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,12]]},"references-count":16,"alternative-id":["10.1136\/bcr-2018-224964"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-224964","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,9,12]]}}}