{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T18:07:28Z","timestamp":1777486048195,"version":"3.51.4"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T00:00:00Z","timestamp":1718841600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T00:00:00Z","timestamp":1718841600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Cherubism is known as a very rare autosomal dominant familial disorder of childhood caused by a mutation in the SH3BP2 gene on 4p16.3. It has not yet been observed at birth and is usually diagnosed in children aged 2\u20137. Here, we present a non-hereditary case of cherubism at a very early age.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 6-month-old girl presented with bilateral progressive jaw enlargement. On physical examination, bilateral asymmetrical jaw enlargement, predominantly on the left side, and some enlarged, non-tender, mobile submandibular lymph nodes were detected. No other abnormality was observed. Further investigations with radiology suggested cherubism and Burkitt\u2019s lymphoma as differential diagnoses. Later on, histopathologic evaluations were suggestive of cherubism. No surgical interventions were indicated, and the child is on regular follow-ups.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Non-hereditary Cherubism, despite scarcity, can present in children below two years of age, even as early as the beginning of primary dentition. Accurate and swift diagnosis is essential to avert physical and psychological complications. Our case report shows the importance of keeping cherubism in mind as a differential diagnosis of bone disease, even in children under a year old, and the value of interdisciplinary collaboration in dealing with rare genetic disorders.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-024-04825-9","type":"journal-article","created":{"date-parts":[[2024,6,20]],"date-time":"2024-06-20T10:03:20Z","timestamp":1718877800000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Nonfamilial cherubism in a 6-month-old infant: a case report"],"prefix":"10.1186","volume":"24","author":[{"given":"Seyedeh Sedigheh","family":"Hamzavi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Askari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosemina","family":"Bahrololoom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maral","family":"Mokhtari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anahita","family":"Sanaei Dashti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Yarmahmoodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somaye","family":"Rashidi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,20]]},"reference":[{"issue":"4","key":"4825_CR1","first-page":"946","volume":"17","author":"WA Jones","year":"1933","unstructured":"Jones WA. Familial multilocular cystic disease of the jaws. Am J Cancer Res. 1933;17(4):946\u201350.","journal-title":"Am J Cancer Res"},{"issue":"124","key":"4825_CR2","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1259\/0007-1285-11-124-227","volume":"11","author":"WA Jones","year":"1938","unstructured":"Jones WA. Further observations regarding familial multilocular cystic disease of the jaws. Br J Radiol. 1938;11(124):227\u201341.","journal-title":"Br J Radiol"},{"key":"4825_CR3","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1302\/0301-620X.32B3.334","volume":"b32\u2013B","author":"WA Jones","year":"1950","unstructured":"Jones WA, Gerrie J, Pritchard J. Cherubism-familial fibrous dysplasia of the jaws. J Bone Joint Surg Br. 1950;b32\u2013B:334\u201347.","journal-title":"J Bone Joint Surg Br"},{"key":"4825_CR4","doi-asserted-by":"publisher","unstructured":"Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ. Cherubism: best clinical practice. 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The patient\u2019s parents agreed to participate with their child in this project and provided written informed consent. The patient\u2019s identity was protected. This research was approved by the Shiraz University of Medical Sciences ethics committee. Approval ID: IR.SUMS.REC.1402.025.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication was obtained from the child\u2019s parents. All radiologic, laboratory, and pathologic findings and images are anonymized, and no patient identification is reported.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflict of interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}}],"article-number":"402"}}