{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,30]],"date-time":"2024-12-30T18:31:23Z","timestamp":1735583483431},"reference-count":7,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2015,7,14]],"date-time":"2015-07-14T00:00:00Z","timestamp":1436832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:sec><jats:label \/><jats:p>Alpha thalassemia\u2010mental retardation, X\u2010linked (ATR\u2010X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19\u2010year\u2010old male diagnosed with ATR\u2010X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non\u2010operative treatment. Small and large bowel volvulus are uncommon and life\u2010threatening gastrointestinal manifestations of ATR\u2010X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37252","type":"journal-article","created":{"date-parts":[[2015,7,15]],"date-time":"2015-07-15T05:07:17Z","timestamp":1436936837000},"page":"2777-2779","source":"Crossref","is-referenced-by-count":4,"title":["Volvulus and bowel obstruction in ATR\u2010X syndrome\u2014clinical report and review of literature"],"prefix":"10.1002","volume":"167","author":[{"given":"Nir","family":"Horesh","sequence":"first","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron","family":"Pery","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imri","family":"Amiel","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaya","family":"Shwaartz","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Speter","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larisa","family":"Guranda","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mordechai","family":"Gutman","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aviad","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Department of Surgery and Transplantation Chaim Sheba Medical Center (affiliated with the Faculty of medicine, University of Tel Aviv, Tel Aviv, Israel) Tel\u2010Hashomer Ramat Gan Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,7,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-15"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550309"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90287-2"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200001)47:1<117::AID-ANA20>3.0.CO;2-A"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302499"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31248"}],"container-title":["American Journal of Medical Genetics Part 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