{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:00:57Z","timestamp":1791993657252,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patient\u2010reported concerns indicate that gastrointestinal (GI) manifestations affect the skeletal dysplasia population, but quantitative information regarding prevalence and severity of GI issues is limited. We examined the frequency and characteristics of GI symptoms in adults with skeletal dysplasias by reviewing 101 responses to the Gastrointestinal Symptom Rating Scale (GSRS). Participant demographics, medication history, and ambulatory status were collected from medical records. Compared to published GSRS reference data, our cohort scored higher on reflux, diarrhea, and total scores, and lower on abdominal pain and indigestion scores; none of these differences were statistically significant. Although osteogenesis imperfecta respondents had more severe symptoms across all domains, only reflux reached significance (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.009). Scores in patients with achondroplasia were higher for indigestion, constipation, diarrhea, and total scores and lower on abdominal pain and reflux scores than the general population; only the diarrhea score was significant (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.034). There were no statistically significant differences in any of the domain or total GSRS scores across ambulatory status groups. Increased height correlated with worse abdominal pain domain score (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.033). The number of medications positively correlated with total GSRS score (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.013). Future studies should include larger numbers of individuals to allow a more in\u2010depth analysis of patient\u2010reported symptoms and signs within this population.<\/jats:p>","DOI":"10.1002\/ajmg.a.62658","type":"journal-article","created":{"date-parts":[[2022,2,2]],"date-time":"2022-02-02T06:35:52Z","timestamp":1643783752000},"page":"1435-1442","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Patient\u2010reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1211-5799","authenticated-orcid":false,"given":"Holly M.","family":"LoTurco","sequence":"first","affiliation":[{"name":"Kathryn O. and Alan C. 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Greenberg Center for Skeletal Dysplasias Hospital for Special Surgery  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0000000000001051"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-009-1256-0"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365529609095544"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/00365529309098272"},{"issue":"5","key":"e_1_2_10_6_1","first-page":"303","article-title":"A formula to estimate the approximate surface area if height and weight be known. 1916","volume":"5","author":"Du Bois D.","year":"1989","journal-title":"Nutrition (Burbank, Los Angeles County, Calif.)"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clp.2015.03.003"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181daae9b"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-199509000-00010"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jped.2018.12.008"},{"key":"e_1_2_10_11_1","first-page":"1","article-title":"Anthropometric reference data for children and adults: United States, 1988\u20101994","volume":"249","author":"McDowell M. 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