{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:38Z","timestamp":1790416538216,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,7,17]],"date-time":"2002-07-17T00:00:00Z","timestamp":1026864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Russell\u2010Silver syndrome (RSS) is a genetic syndrome with clinical manifestations of intrauterine and postnatal growth retardation, normal head circumference, body asymmetry, and distinctive facial appearance. We followed an infant diagnosed with RSS who had occurrence of multiple gastrointestinal complications. Although there are a number of published reports describing gastrointestinal problems associated with RSS, specific gastrointestinal diseases have not been recognized as major features. We hypothesize that gastrointestinal complications may be more frequent in RSS cases than previously reported. To address our hypothesis, we developed a pilot study of RSS cases to identify and characterize associated gastrointestinal complications. Surveys were distributed by MAGIC, a support group for individuals with RSS. Surveys included information on the objective and subjective characteristics used to diagnose RSS, as well as descriptions of gastrointestinal problems. Completed surveys were returned on 135 individuals. We used strict diagnostic guidelines to determine affected status of children reported in our survey. Of the 135 surveys completed, 65 were determined to have clear\u2010cut RSS. The diagnoses were made without knowledge of the gastrointestinal symptoms of any of the subjects. Of the 65 subjects with \u201cclear cut\u201d RSS, 50 (77%) had gastrointestinal symptoms. Major specific symptoms included gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). A common theme in gastrointestinal complications of RSS is significant gastroesophageal reflux that includes esophagitis and food aversion. Results of this survey suggest that there is an association of gastrointestinal complications with RSS that should be addressed in diagnosis as well as management protocols for children with this condition. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10667","type":"journal-article","created":{"date-parts":[[2002,10,28]],"date-time":"2002-10-28T13:59:04Z","timestamp":1035813544000},"page":"15-19","source":"Crossref","is-referenced-by-count":32,"title":["Gastrointestinal complications of Russell\u2010Silver syndrome: A pilot study"],"prefix":"10.1002","volume":"113","author":[{"given":"Jeff","family":"Anderson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Viskochil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly","family":"O'Gorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad","family":"Gonzales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,7,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2000.tb00357.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2001.tb00383.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711627"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6413"},{"key":"e_1_2_5_6_1","first-page":"1125","volume-title":"Nelson textbook of pediatrics","author":"Herbst JJ","year":"2000"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.71.6.490"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302717"},{"key":"e_1_2_5_9_1","first-page":"106","article-title":"Composite international and interracial graphs","volume":"41","author":"Nellhaus G","year":"1968","journal-title":"Pediatrics"},{"key":"e_1_2_5_10_1","first-page":"837","article-title":"The spectrum of Silver\u2010Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price SM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_11_1","first-page":"1040","article-title":"A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms and other anomalies","volume":"47","author":"Russell A","year":"1954","journal-title":"Proc R Soc Med"},{"key":"e_1_2_5_12_1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","article-title":"Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins","volume":"12","author":"Silver HK","year":"1953","journal-title":"Pediatrics"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053086"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197508000-00001"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053085"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01958638"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10667","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10667","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T20:21:59Z","timestamp":1696710119000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10667"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,17]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,11,15]]}},"alternative-id":["10.1002\/ajmg.10667"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10667","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,17]]}}}