{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T16:17:19Z","timestamp":1782145039788,"version":"3.54.5"},"reference-count":11,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,8,26]]},"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:p>Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is an interstitial lung disease. In ACDMPV, respiratory impairment with severe pulmonary hypertension occurs from the early hours of life. Anomalies in the cardiovascular, gastrointestinal and genitourinary systems have been reported. However, little is known about upper airway abnormalities. We encountered a genetically diagnosed ACDMPV infant who presented with subglottic and bronchial stenosis. The prenatal diagnosis was hypoplastic left heart syndrome. Her respiratory condition worsened at 16 hours of life. We found subglottic stenosis when intubating. She died on day 7. Autopsy imaging with CT scan showed bilateral main bronchial stenosis. Chromosomal microarray revealed a 531\u2009kb deletion in chromosome 16q24.1, including <jats:italic>FOXF1<\/jats:italic>.<\/jats:p>","DOI":"10.1136\/bcr-2024-261004","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T14:57:36Z","timestamp":1726153056000},"page":"e261004","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Alveolar capillary dysplasia complicated by subglottic stenosis"],"prefix":"10.1136","volume":"17","author":[{"given":"Kotaro","family":"Nagamoto","sequence":"first","affiliation":[{"name":"Center for Postgraduate, Education and Training, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1008-5071","authenticated-orcid":false,"given":"Hidehiko","family":"Maruyama","sequence":"additional","affiliation":[{"name":"Neonatology, National Center for Child Health and Development, Setagaya-ku, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Ishuguro","sequence":"additional","affiliation":[{"name":"Center for Postgraduate, Education and Training, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yushi","family":"Ito","sequence":"additional","affiliation":[{"name":"Neonatology, National Center for Child Health and Development, Setagaya-ku, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"key":"2025082709464759000_17.9.e261004.1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201010-1697CI"},{"key":"2025082709464759000_17.9.e261004.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.08.035"},{"key":"2025082709464759000_17.9.e261004.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.005"},{"key":"2025082709464759000_17.9.e261004.4","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1111\/j.1447-0756.2010.01447.x","article-title":"Alveolar capillary dysplasia associated with duodenal atresia: ultrasonographic findings of enlarged, highly echogenic lungs and gastric dilatation in a third-trimester fetus","volume":"37","author":"Obata-Yasuoka","year":"2011","journal-title":"J Obstet Gynaecol Res"},{"key":"2025082709464759000_17.9.e261004.5","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1007\/s00540-010-1080-5","article-title":"A novel association of alveolar capillary dysplasia, atypical duodenal atresia, and subglottic stenosis","volume":"25","author":"Shimizu","year":"2011","journal-title":"J Anesth"},{"key":"2025082709464759000_17.9.e261004.6","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2023-062925","article-title":"Endotracheal Tube Size Adjustments Within Seven Days of Neonatal Intubation","volume":"153","author":"Peebles","year":"2024","journal-title":"Pediatrics"},{"key":"2025082709464759000_17.9.e261004.7","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/jp.2013.175","article-title":"Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities","volume":"34","author":"Bellamkonda-Athmaram","year":"2014","journal-title":"J Perinatol"},{"key":"2025082709464759000_17.9.e261004.8","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.171"},{"key":"2025082709464759000_17.9.e261004.9","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1002\/ajmg.a.61162","article-title":"Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1","volume":"179","author":"Bourque","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082709464759000_17.9.e261004.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2019.01.047"},{"key":"2025082709464759000_17.9.e261004.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.10.026"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T16:46:54Z","timestamp":1756313214000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9]]},"references-count":11,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,9,12]]},"published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1136\/bcr-2024-261004"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261004","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9]]}}}