{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T16:57:33Z","timestamp":1784048253425,"version":"3.55.0"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies. Although skeletal anomalies are reported in about 75% of cases, their nature and extent in relation to growth are largely unknown. Therefore, this study aims to asses the prevalence of skeletal anomalies in KBG syndrome and explore whether there is a relationship with short stature. This retrospective cohort study includes patients with a confirmed diagnosis of KBG syndrome, with available radiographic images at the Radboud University Medical Center. The radiographs were re\u2010evaluated by a radiologist focusing on the presence of spinal, costal, vertebral, and hand anomalies using standardized radiological criteria. In our cohort of 38 persons with KBG syndrome, 92% show skeletal anomalies on radiographic imaging. The most frequent observations on the radiographs were spinal anomalies (74%) and costal anomalies (40%). Specifically, lordosis (36%) had the highest prevalence. Patients with short stature (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200914) showed higher prevalences of kyphosis and delayed skeletal age. In conclusion, this study demonstrates a high prevalence and broad variety of skeletal anomalies in individuals with KBG syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70080","type":"journal-article","created":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T02:58:56Z","timestamp":1770951536000},"page":"1306-1314","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Expanding the Evaluation of Skeletal Anomalies in Patients With\n                    <scp>KBG<\/scp>\n                    Syndrome: Recommendations for Clinical Practice"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-9978-2884","authenticated-orcid":false,"given":"Marit","family":"van der Leij","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Amalia Children's Hospital Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"de Groot","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Orlandini","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4309-533X","authenticated-orcid":false,"given":"Willemijn M.","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0329-1520","authenticated-orcid":false,"given":"Charlotte W.","family":"Ockeloen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce M.","family":"Geelen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Developmental and Genetic Pediatrics, Amalia Children's Hospital Radboud University Medical Center  Nijmegen the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64168"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101170"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63119"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12799"},{"issue":"4","key":"e_1_2_11_6_1","first-page":"E589","article-title":"Postoperative Pain in Adolescent Idiopathic Scoliosis Surgery: A Randomized Controlled Trial","volume":"25","author":"Canbolat N.","year":"2022","journal-title":"Pain Physician"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.580314"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12891\u2010022\u201005863\u2010z"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.06.007"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1590\/0100\u20103984.2019.0131"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010024\u201003005\u20107"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.167.2.2965816"},{"key":"e_1_2_11_13_1","unstructured":"Gaillard F. 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