{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:40:14Z","timestamp":1756305614725,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,11,25]]},"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>The treatment of pathological femoral neck fracture in children due to osteopetrosis is not clear as only a few cases have been reported to date. We encountered a 7-year-old osteopetrotic girl with asynchronous bilateral femoral neck fractures. Radiographical assessment showed markedly dense bones with loss of corticomedullary differentiation, sandwich vertebrae and increased density of the ribs. Her mother had a similar radiological picture. Genetic testing showed CLCN-7 mutation which confirmed the diagnosis of autosomal dominant osteopetrosis. As the parents opted against operative treatment, the femoral neck fractures were managed conservatively with skin traction. At the 2-year follow-up, both fractures had united, although with coxa vara, and the patient had excellent functional outcome as she could walk without difficulty, had unrestricted motion at both hips, and there was no pain. Lifestyle modifications were suggested to prevent recurrent fractures and genetic counselling was done.<\/jats:p>","DOI":"10.1136\/bcr-2020-236891","type":"journal-article","created":{"date-parts":[[2020,12,13]],"date-time":"2020-12-13T23:30:22Z","timestamp":1607902222000},"page":"e236891","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Paediatric bilateral femoral neck fractures in osteopetrosis treated conservatively"],"prefix":"10.1136","volume":"13","author":[{"given":"Saurabh","family":"Kumar","sequence":"first","affiliation":[{"name":"Department of Orthopaedics, University College of Medical Sciences, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ish Kumar","family":"Dhammi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, University College of Medical Sciences, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4903-9697","authenticated-orcid":false,"given":"Pratyush","family":"Shahi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, University College of Medical Sciences, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmer","family":"Zafar","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, University College of Medical Sciences, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,12,13]]},"reference":[{"key":"2025082707032442000_13.12.e236891.1","doi-asserted-by":"crossref","first-page":"912","DOI":"10.2106\/00004623-198264060-00016","article-title":"Osteopetrosis. A morphological study of twenty-one cases","volume":"64","author":"Milgram","year":"1982","journal-title":"J Bone Joint Surg Am"},{"key":"2025082707032442000_13.12.e236891.2","doi-asserted-by":"crossref","first-page":"162","DOI":"10.5435\/00124635-200903000-00005","article-title":"Hip fractures in children","volume":"17","author":"Boardman","year":"2009","journal-title":"J Am Acad Orthop Surg"},{"key":"2025082707032442000_13.12.e236891.3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-4-5","article-title":"Review osteopetrosis","volume":"4","author":"Stark","year":"2009","journal-title":"Orph J Rare Diseases"},{"key":"2025082707032442000_13.12.e236891.4","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/00003086-199309000-00005","article-title":"Osteopetrosis. Current clinical considerations","volume":"294","author":"Shapiro","year":"1993","journal-title":"Clin Orthop Relat Res"},{"key":"2025082707032442000_13.12.e236891.5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra040952"},{"key":"2025082707032442000_13.12.e236891.6","unstructured":"Sobacchi C , Villa A , Schulz A , et al . CLCN7-Related Osteopetrosis. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae Internet. Seattle WA: University of Washington, Seattle, 2007: 1993\u20132020."},{"key":"2025082707032442000_13.12.e236891.7","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.amsu.2018.10.038","article-title":"Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. Case series and review of pertinent literature","volume":"36","author":"Hasan","year":"2018","journal-title":"Ann Med Surg"},{"key":"2025082707032442000_13.12.e236891.8","first-page":"488","article-title":"Fracture management in osteopetrosis: an intriguing enigma a guide for surgeons","volume":"83","author":"Dawar","year":"2017","journal-title":"Acta Orthop Belg"},{"key":"2025082707032442000_13.12.e236891.9","doi-asserted-by":"publisher","DOI":"10.1097\/00004694-199901000-00026"},{"key":"2025082707032442000_13.12.e236891.10","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.jcot.2012.09.007","article-title":"Metachronous bilateral subtrochanteric fracture of femur in an osteopetrotic bone: a case report with technical note","volume":"3","author":"Kumar","year":"2012","journal-title":"J Clin Orthop Trauma"},{"key":"2025082707032442000_13.12.e236891.11","first-page":"1","article-title":"Surgical treatment of osteopetrosis-related femoral fractures: two case reports and literature review","volume":"2014","author":"Aslan","year":"2014","journal-title":"Case Rep Orthop"},{"key":"2025082707032442000_13.12.e236891.12","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1007\/s00402-007-0392-x","article-title":"Conservative management of bilateral femoral neck fractures in a child with autosomal dominant osteopetrosis","volume":"127","author":"Krieg","year":"2007","journal-title":"Arch Orthop Trauma Surg"},{"key":"2025082707032442000_13.12.e236891.13","doi-asserted-by":"crossref","DOI":"10.1186\/1752-1947-4-142","article-title":"Management of subtrochanteric femur fractures with internal fixation and recombinant human bone morphogenetic protein-7 in a patient with osteopetrosis: a case report","volume":"4","author":"Golden","year":"2010","journal-title":"J Med Case Rep"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-236891","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:03:37Z","timestamp":1756303417000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-236891"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":13,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,12,13]]},"published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1136\/bcr-2020-236891"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-236891","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2020,12]]}}}