{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T08:39:15Z","timestamp":1792658355733,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1R61NS122094\u201001"],"award-info":[{"award-number":["1R61NS122094\u201001"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>NF1\u2010related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole\u2010body magnetic resonance imaging (WB\u2010MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann &amp; Robert H. Lurie Children's Hospital of Chicago in collaboration with the National Institutes of Health. The four participants were aged 12, 17, 32, and 34 at the time of WB\u2010MRI; three out of four were female. In cases 1 through 3, there was an underlying internal PN on the side of sacroiliac dysplasia. All cases were unilateral and intraarticular, and two involved subcutaneous tissue. The PNs were too small to measure in two cases. Among the measurable lesions, one was localized, and one was diffuse with extension into the lower extremity. The localized PN showed a 20% increase in size over a one\u2010year follow\u2010up period. In cases 1 through 3, no sequelae such as pain or fractures were observed during the follow\u2010up period. Case 4 was referred for surgical evaluation due to persistent pain. Our findings highlight a potentially underreported developmental abnormality of the sacroiliac joint in individuals with NF1.<\/jats:p>","DOI":"10.1002\/ajmg.a.64238","type":"journal-article","created":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T03:04:33Z","timestamp":1756523073000},"page":"223-228","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Sacroiliac Joint Involvement: An Underreported Complication of\n                    <scp>NF1<\/scp>"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4734-3396","authenticated-orcid":false,"given":"Jenny P.","family":"Garzon","sequence":"first","affiliation":[{"name":"Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Dombi","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Branch National Cancer Institute  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Samet","sequence":"additional","affiliation":[{"name":"Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2346-6455","authenticated-orcid":false,"given":"Maria P.","family":"Silva","sequence":"additional","affiliation":[{"name":"Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7488-2662","authenticated-orcid":false,"given":"Carolyn R.","family":"Raski","sequence":"additional","affiliation":[{"name":"Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sawin","sequence":"additional","affiliation":[{"name":"Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[{"name":"Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"},{"name":"Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00256\u2010019\u201003290\u20101"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012437"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/01676830.2025.2470989"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/2013.1.PEDS12409"},{"issue":"8","key":"e_1_2_10_6_1","first-page":"370","article-title":"Sacroiliac Joint Dysfunction in Patients With Low Back Pain","volume":"36","author":"Barros G.","year":"2019","journal-title":"Federal Practitioner"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1213\/01.ANE.0000180831.60169.EA"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000435744.57038.af"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1605943"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33045"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010024\u201003361\u20104"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.4"},{"issue":"4","key":"e_1_2_10_13_1","first-page":"644","article-title":"Reassessment of Sphenoid Dysplasia Associated With Neurofibromatosis Type 1","volume":"23","author":"Jacquemin C.","year":"2002","journal-title":"American Journal of Neuroradiology"},{"issue":"8","key":"e_1_2_10_14_1","first-page":"1678","article-title":"Orbit Deformities in Craniofacial Neurofibromatosis Type 1","volume":"24","author":"Jacquemin C.","year":"2003","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.CC.21.00653"},{"issue":"11","key":"e_1_2_10_16_1","first-page":"492","article-title":"Intra\u2010Articular Neurofibroma: An Unusual Source of Anterior Knee Pain","volume":"41","author":"Kelly D. 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