Article
Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV.
Journal of pediatric surgery - 1 Feb 2004
Fuchs Julie R, Fishman Steven J
Abstract excerpt
A 14-year-old girl with a family history of fatal colonic rupture, presented with a 2-day history of abdominal pain and signs of peritonitis. At laparotomy, a full-thickness perforation of the sigmoid colon was found, which was exteriorized as a loop colostomy. Subsequently, molecular studies of the patient's cultured fibroblasts found a point mutation in the COL3A1 gene, confirming a diagnosis of Ehlers-Danlos...
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