{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T06:03:47Z","timestamp":1760249027303,"version":"3.38.0"},"reference-count":26,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[1999,1]]},"abstract":"<jats:p> Ehlers-Danlos syndrome (EDS) type IV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III collagen. Clinical manifestations of EDS type IV include hypermobility of small joints, excessive bruisability, thin translucent skin, poor wound healing, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdominal blood vessel ruptures. Even in areas apart from rupture sites, the bowel wall was thin because of diminished submucosa and muscularis propria. Similarly, the walls of blood vessels in bowel submucosa and elsewhere in the abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patient's skin secreted reduced quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in any patient with otherwise unexplainable bowel and\/or vessel rupture. <\/jats:p>","DOI":"10.1007\/s100249900095","type":"journal-article","created":{"date-parts":[[2002,7,25]],"date-time":"2002-07-25T06:40:57Z","timestamp":1027579257000},"page":"86-93","source":"Crossref","is-referenced-by-count":23,"title":["Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV"],"prefix":"10.1177","volume":"2","author":[{"given":"Margaret H.","family":"Collins","sequence":"first","affiliation":[{"name":"Department of Pathology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Schwarze","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Medicine, PO Box 357470, University of Washington, Seattle, WA 98195, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David F.","family":"Carpentieri","sequence":"additional","affiliation":[{"name":"Department of Pathology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paige","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Divisions of Metabolism and Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Nathanson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Divisions of Metabolism and Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James S.","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Radiology, Children's Hospital of Philadelphia, 324 S. 34th Street, Philadelphia, PA 19104, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[{"name":"Departments of Pathology and Medicine, PO Box 357470, University of Washington, Seattle, WA 98195, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1999,1,1]]},"reference":[{"key":"bibr1-s100249900095","first-page":"4029","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Byers PH","year":"1995"},{"key":"bibr2-s100249900095","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9"},{"key":"bibr3-s100249900095","doi-asserted-by":"publisher","DOI":"10.1086\/301641"},{"key":"bibr4-s100249900095","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM). 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