{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:21:47Z","timestamp":1761718907376,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,3,13]]},"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:p>Amniotic band sequence (ABS) is common birth defect of incompletely understood origin. Here we describe a case of ABS in a child with paternally inherited Ehlers-Danlos syndrome, vascular type (vEDS). This is the third reported instance of ABS associated with paternally inherited vEDS in the medical literature. The two main theories of ABS formation are the extrinsic and intrinsic. The extrinsic theory states that placental tears form fibrous cords that wrap around the fetus; the intrinsic states that poor vascularisation in the fetus leads to necrosis of distal extremities. We believe this case supports extrinsic theory as it shows that as an amnion weakened by vEDS in fetal components is associated with ABS.<\/jats:p>","DOI":"10.1136\/bcr-2019-232020","type":"journal-article","created":{"date-parts":[[2020,3,24]],"date-time":"2020-03-24T15:35:40Z","timestamp":1585064140000},"page":"e232020","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Inherited cause of in utero digital malformations"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0919-7933","authenticated-orcid":false,"given":"Catherine","family":"Gooch","sequence":"first","affiliation":[{"name":"Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caitlin","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Nelson","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathaniel","family":"Robin","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA"},{"name":"Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,3,24]]},"reference":[{"key":"2025082711473491000_13.3.e232020.1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.H.01592"},{"key":"2025082711473491000_13.3.e232020.2","unstructured":"Pepin MG , Murray ML , Byers PH , et al . Vascular Ehlers-Danlos Syndrome. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews. Seattle: University of Washington, 1999. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1494\/"},{"key":"2025082711473491000_13.3.e232020.3","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/0002-9378(65)90588-0","article-title":"AMNIOCHORIONIC Mesoblastic fibrous strings and amnionic bands: associated constricting fetal malformations or fetal death","volume":"91","author":"Torpin","year":"1965","journal-title":"Am J Obstet Gynecol"},{"key":"2025082711473491000_13.3.e232020.4","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1002\/ajmg.a.30885","article-title":"Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence","volume":"137A","author":"Robin","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025082711473491000_13.3.e232020.5","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00047.x"},{"key":"2025082711473491000_13.3.e232020.6","doi-asserted-by":"publisher","DOI":"10.1136\/adc.60.11.1061"},{"key":"2025082711473491000_13.3.e232020.7","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ajmg.a.61449","article-title":"Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome","volume":"182","author":"Callaghan","year":"2020","journal-title":"Am J Med Genet A"},{"key":"2025082711473491000_13.3.e232020.8","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.72"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-232020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:47:46Z","timestamp":1756320466000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-232020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3]]},"references-count":8,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,3,24]]},"published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1136\/bcr-2019-232020"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-232020","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2020,3]]}}}