{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:28Z","timestamp":1792153048135,"version":"4.4.0"},"reference-count":35,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T00:00:00Z","timestamp":1147219200000},"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":[[2006,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked alpha thalassemia mental retardation (ATR\u2010X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR\u2010X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro\u2010intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR\u2010X cases. In this report we review the gastrointestinal phenotype of ATR\u2010X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo\u2010volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra\u2010short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31248","type":"journal-article","created":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T20:24:12Z","timestamp":1147292652000},"page":"1172-1176","source":"Crossref","is-referenced-by-count":26,"title":["Gastrointestinal phenotype of ATR\u2010X syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Giuseppe","family":"Martucciello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lombardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Savasta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Gibbons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,5,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400419"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.734"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2005.01.057"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.50.1.469"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.742"},{"key":"e_1_2_5_7_1","first-page":"S45","article-title":"Surgical therapy for atypical symptoms of GERD: Patient selection and preoperative evaluation","volume":"30","author":"Floch NR","year":"2000","journal-title":"J Clin Gastroenterol"},{"key":"e_1_2_5_8_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_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550309"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90287-2"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(05)80001-6"},{"key":"e_1_2_5_12_1","first-page":"1185","article-title":"A novel mutation in the putative DNA helicase XH2 is responsible for male\u2010to\u2010female sex reversal associated with an atypical form of the ATR\u2010X syndrome","volume":"58","author":"Ion A","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_1","first-page":"193","volume-title":"Pediatric esophageal surgery","author":"Johnson DG","year":"1986"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30990"},{"key":"e_1_2_5_15_1","first-page":"200","article-title":"X\u2010linked alpha\u2010thalassemia\/mental retardation (ATR\u2010X) syndrome. Report of three male patients in a large French family","volume":"36","author":"Lefort G","year":"1993","journal-title":"Ann Genet"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.70.5.439"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.101.2.260"},{"key":"e_1_2_5_18_1","first-page":"245","article-title":"Hirschsprung's disease: Alpha\u2010naphthylesterase activity in the enzyme\u2010histochemical evaluation of the extent of the aganglionic segment during surgery","volume":"20","author":"Martucciello G","year":"1988","journal-title":"Mater Med Pol"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2005.07.053"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00439.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550311"},{"key":"e_1_2_5_22_1","first-page":"1","article-title":"Pathology of chronic constipation in pediatric and adult coloproctology","volume":"72","author":"Meier\u2010Ruge WA","year":"2005","journal-title":"Pathobiology"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.3.245"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.20-1-24"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8553(05)70099-6"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2001.26370"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.339"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550308"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(85)80003-8"},{"key":"e_1_2_5_30_1","first-page":"A78","article-title":"Another X\u2010linked mental retardation syndrome","volume":"47","author":"Sommer A","year":"1990","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-359"},{"key":"e_1_2_5_32_1","first-page":"183","article-title":"Evaluation of a mutation screening strategy for sporadic cases of ATR\u2010X syndrome","volume":"36","author":"Villard L","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.0.CO;2-N"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000918)94:3<242::AID-AJMG11>3.0.CO;2-K"},{"key":"e_1_2_5_35_1","first-page":"1127","article-title":"Clinical features and molecular analysis of the alpha thalassemia\/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex","volume":"46","author":"Wilkie AO","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.738"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31248","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31248","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T06:49:10Z","timestamp":1697093350000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,10]]},"references-count":35,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1002\/ajmg.a.31248"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31248","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,10]]}}}