{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T16:35:31Z","timestamp":1772987731985,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T00:00:00Z","timestamp":1764201600000},"content-version":"vor","delay-in-days":330,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Diaphragmatic rupture is an uncommonly seen complication of classical Ehlers\u2013Danlos syndrome (cEDS). There have been no documented cases of diaphragmatic hernia in newborns having cEDS. This case study discusses a male infant delivered through spontaneous vertex delivery to a mother with cEDS. No evidence of a diaphragmatic hernia was found 6\u2009days before delivery when an ultrasound scan to monitor a ventricular septal defect was carried out. Postnatally, the infant displayed signs of severe respiratory distress. A chest radiograph revealed a diaphragmatic hernia. The surgical team found and corrected a small posterolateral diaphragmatic defect on the third day of life. This resulted in a good recovery following management of a complication of chylothorax. The mother was known to have cEDS and bidirectional sequencing of the patient\u2019s lymphocyte DNA detected the heterozygous pathogenic familial variant\n                    <jats:italic>COL1A1<\/jats:italic>\n                    c.934C\u2009&gt;\u2009T;p.(Arg312Cys). This variant has been previously reported in cases of cEDS. Other\n                    <jats:italic>COL1A1<\/jats:italic>\n                    variants are known to be associated with arthrochalasia\u2010type EDS and osteogenesis imperfecta, but no\n                    <jats:italic>COL1A1<\/jats:italic>\n                    variants have been associated previously with congenital diaphragmatic hernia or diaphragmatic rupture. The familial variant impacts the highly conserved arginine residue in the Gly\u2013X\u2013Y triplet motif of the Type\u2010I collagen protein. It has been reported in various families as a rare cause of autosomal\u2010dominant cEDS. This case report details the patient\u2019s journey, including images of radiographs, highlighting a rare but important complication of spontaneous vertex delivery for individuals with cEDS. We also include a literature review on diaphragmatic hernia and rupture in classical EDS.\n                  <\/jats:p>","DOI":"10.1155\/crig\/5233998","type":"journal-article","created":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T13:05:48Z","timestamp":1764248748000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Diaphragmatic Hernia in a Newborn With COL1A1\u2010Associated Classical Ehlers\u2013Danlos Syndrome"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2142-739X","authenticated-orcid":false,"given":"Laven","family":"Anand","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Munro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashalatha","family":"Shetty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3841-0841","authenticated-orcid":false,"given":"John","family":"Dean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Pagan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,27]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1098-1004(1997)9:4<300::aid-humu2>3.3.co;2-8"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci200522760"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/302859"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38035"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20455"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32038"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2012-007341"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00270-005-0154-5"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.55563\/clinexprheumatol\/kzkq6y"},{"key":"e_1_2_10_11_2","unstructured":"DurkieM. CassidyE. J. BerryI.et al. ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024."},{"key":"e_1_2_10_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13643"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/5233998","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/5233998","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/5233998","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:05:56Z","timestamp":1772967956000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/5233998"}},"subtitle":[],"editor":[{"given":"Irfan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crig\/5233998"],"URL":"https:\/\/doi.org\/10.1155\/crig\/5233998","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2025-08-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"5233998"}}