{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T11:11:19Z","timestamp":1767006679583,"version":"3.40.5"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T00:00:00Z","timestamp":1687478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Koolen\u2010de Vries syndrome (KdVS) is a multisystem disorder characterized by developmental delay, intellectual disability, characteristic facial features, epilepsy, cardiovascular and urogenital malformations, and various musculoskeletal disorders. Scoliosis is a common feature. The aim of this study is to fill the gap in the current knowledge about scoliosis in individuals with KdVS and to provide recommendations for management and follow\u2010up. In total, 54 individuals with KdVS were included in the study, with a mean age of 13.6\u2009years (range 1.9\u201338.8\u2009years). Spine radiographs, MR scans, and corresponding radiology reports were analyzed retrospectively for scoliosis and additional anomalies. The presence of scoliosis\u2010related clinical conditions was assessed in participants' medical records and by use of a parent survey. Scoliosis was present in 56% of the participants (30\/54) with a mean age of onset of 10.6\u2009years and curve progression during the growth spurt<jats:italic>.<\/jats:italic> Prevalence at age 6, 10, and 18\u2009years was, respectively, 9%, 41%, and 65%. Most participants were diagnosed with a single curve (13\/24, 54%), of which five participants had a long C\u2010curve type scoliosis. No significant risk factors for development of scoliosis could be identified. Severity was mostly classified as mild, although 29% (7\/24) of the curves were larger than 30\u00b0 at last follow\u2010up. Bracing therapy was received in 13% (7\/54), and surgical spinal fusion was warranted in 6% (3\/54). Remarkably, participants with scoliosis received less often physical therapy compared to participants without scoliosis (<jats:italic>P\u2009=<\/jats:italic>\u20090.002). Scoliosis in individuals with KdVS should be closely monitored and radiologic screening for scoliosis and vertebrae abnormalities is recommended at diagnosis of KdVS, and the age of 10 and 18\u2009years.<\/jats:p>","DOI":"10.1002\/ajmg.a.63334","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T23:49:01Z","timestamp":1687650541000},"page":"2346-2355","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and radiological assessment of scoliosis in Koolen\u2010de Vries syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1138-8026","authenticated-orcid":false,"given":"Arianne","family":"Bouman","sequence":"first","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romy N.","family":"Bouwmeester","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3511-3393","authenticated-orcid":false,"given":"Leo A.","family":"van Vlimmeren","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation and Pediatric Physical Therapy Radboud University Medical Center, Amalia Children's Hospital  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2109-5451","authenticated-orcid":false,"given":"Pauline","family":"Burger","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Department of Neurogenetics and Translational Medicine Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM U1258), Universit\u00e9 de Strasbourg  Illkirch France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0535-6589","authenticated-orcid":false,"given":"Jean\u2010Louis","family":"Mandel","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), Department of Neurogenetics and Translational Medicine Centre National de la Recherche Scientifique (CNRS UMR7104), Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM U1258), Universit\u00e9 de Strasbourg  Illkirch France"},{"name":"University of Strasbourg, Institute for Advanced Studies (USIAS)  Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0000-2917","authenticated-orcid":false,"given":"Bert B. A.","family":"de Vries","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3506-1212","authenticated-orcid":false,"given":"Marinus","family":"de Kleuver","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Willemijn M.","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce M.","family":"Geelen","sequence":"additional","affiliation":[{"name":"Developmental and Genetic Pediatrics Amalia Children's Hospital, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2152-4626","authenticated-orcid":false,"given":"David A.","family":"Koolen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00702-022-02569-3"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.240200.114"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35652"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.134.5.979"},{"key":"e_1_2_10_6_1","unstructured":"Gavin M. 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