{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T21:51:41Z","timestamp":1777672301884,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T00:00:00Z","timestamp":1744416000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T00:00:00Z","timestamp":1744416000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. Its association with dentinogenesis imperfecta (DI) is well documented, but the concurrent presentation with nephrocalcinosis is uncommon and poorly understood. We documented the case of an 18-year-old male presenting with a triad of OI, DI, and nephrocalcinosis. The patient exhibited characteristic features including blue sclera, multiple fractures, dental abnormalities, bowing of long bones, a short stature, and biochemical evidence of altered calcium metabolism. Genetic testing revealed mutations in COL1A1, confirming the diagnosis of OI Type I. This case highlights the importance of comprehensive evaluation in OI patients, emphasizing the need for dental and renal assessment. The presence of nephrocalcinosis in OI demands further investigation into the mechanisms of calcium dysregulation in disorders of these kinds.<\/jats:p>","DOI":"10.1177\/23247096251334237","type":"journal-article","created":{"date-parts":[[2025,4,12]],"date-time":"2025-04-12T05:33:36Z","timestamp":1744436016000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Blue Sclera to Brittle Bones: A Rare Case of Osteogenesis Imperfecta With Dentinogenesis Imperfecta and Nephrocalcinosis"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-6631-9292","authenticated-orcid":false,"given":"Saad","family":"Hayat","sequence":"first","affiliation":[{"name":"Khyber College of Dentistry, Peshawar, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad Roshan","family":"Mayan","sequence":"additional","affiliation":[{"name":"Khyber College of Dentistry, Peshawar, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malik WZ","family":"Khan","sequence":"additional","affiliation":[{"name":"Yale School of Medicine, New Haven, CT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qazi Jawad","family":"Hayat","sequence":"additional","affiliation":[{"name":"Khyber College of Dentistry, Peshawar, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,12]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.12.012"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-31"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2010.01033.x"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01958277"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0176466"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/000163502753509446"},{"issue":"6","key":"e_1_3_3_11_2","first-page":"57","article-title":"Nephrocalcinosis and nephrolithiasis in children with metabolic bone disorders","volume":"14","author":"Eddy MC.","year":"2004","unstructured":"Eddy MC. Nephrocalcinosis and nephrolithiasis in children with metabolic bone disorders. Clin Calcium. 2004;14(6):57-61.","journal-title":"Clin Calcium"},{"issue":"3","key":"e_1_3_3_12_2","first-page":"155","article-title":"Bone metabolism in patients with osteogenesis imperfecta","volume":"4","author":"Ashournia H","year":"2015","unstructured":"Ashournia H, Johansen FT, Folkestad L, et al Bone metabolism in patients with osteogenesis imperfecta. Endocr Connect. 2015;4(3):155-163.","journal-title":"Endocr Connect"},{"issue":"5","key":"e_1_3_3_13_2","first-page":"505","article-title":"Oral and craniofacial manifestations of osteogenesis imperfecta: implications for clinical practice","volume":"18","author":"Retrouvey JM","year":"2020","unstructured":"Retrouvey JM, Sica I, Bezerra M, et al Oral and craniofacial manifestations of osteogenesis imperfecta: implications for clinical practice. Curr Osteoporos Rep. 2020;18(5):505-516.","journal-title":"Curr Osteoporos Rep"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.me.43.020192.001413"}],"container-title":["Journal of Investigative Medicine High Impact Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096251334237","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/23247096251334237","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096251334237","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T08:04:25Z","timestamp":1777449865000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/23247096251334237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,12]]},"references-count":13,"alternative-id":["10.1177\/23247096251334237"],"URL":"https:\/\/doi.org\/10.1177\/23247096251334237","relation":{},"ISSN":["2324-7096","2324-7096"],"issn-type":[{"value":"2324-7096","type":"print"},{"value":"2324-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,12]]},"article-number":"23247096251334237"}}