{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T15:10:02Z","timestamp":1745766602445,"version":"3.40.4"},"reference-count":22,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Accidental bony injuries are common in children. Children may also present with bony injuries following non-accidental injuries. Pathological fractures, though extremely rare, are an important entity and constitute fractures that occur in abnormal bones, usually after minor trauma. Pycnodysostosis is a rare skeletal dysplasia characterised by a clinical phenotype that includes short stature, skull deformities, osteosclerosis, acroosteolysis and bone fragility. Often the disease is diagnosed at an early age as a result of the investigation of short stature. However, the diagnosis is sometimes delayed and must be considered in any child with a history of recurrent or multiple bone fractures and dysmorphic features. The purpose of this report is to describe the clinical, radiological and genetic issues of a 9-year-old girl with a long history of multiple bone fractures. She had been subjected to safeguarding investigations previously and was identified to have dysmorphic features diagnosed as pycnodysostosis associated with craniosynostosis.<\/jats:p>","DOI":"10.1136\/bcr-2012-006930","type":"journal-article","created":{"date-parts":[[2012,11,21]],"date-time":"2012-11-21T15:38:21Z","timestamp":1353512301000},"page":"bcr2012006930","source":"Crossref","is-referenced-by-count":5,"title":["A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis"],"prefix":"10.1136","volume":"2012","author":[{"given":"Alberto","family":"Berenguer","sequence":"first","affiliation":[]},{"given":"Ant\u00f3nio Pedro","family":"Freitas","sequence":"additional","affiliation":[]},{"given":"Gomes","family":"Ferreira","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9 Luis","family":"Nunes","sequence":"additional","affiliation":[]}],"member":"239","published-online":{"date-parts":[[2012,11,21]]},"reference":[{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.1","first-page":"999","article-title":"Pycnodysostosis","volume":"25","author":"Maroteaux","year":"1962","journal-title":"Presse Med"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-235"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.273.5279.1236"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.4","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.10.1649"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.5","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.9490","article-title":"Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis","volume":"28","author":"Donnarumma","year":"2007","journal-title":"Hum Mutat"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.6","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1186\/1471-2350-10-76","article-title":"A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin","volume":"10","author":"Naeem","year":"2009","journal-title":"BMC Med Genet"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.7","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-20"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.8","doi-asserted-by":"crossref","first-page":"277","DOI":"10.2310\/JIM.0b013e318202a9db","article-title":"Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)","volume":"59","author":"Toral\u2013L\u00f3pez","year":"2011","journal-title":"J Investig Med"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031055"},{"key":"2025042707362862000_2012.nov21_1.bcr2012006930.10","doi-asserted-by":"crossref","unstructured":"Schilling AF M\u00fclhausen C Lehmann W . 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