title: Cherubism: a case report.
abstract: Cherubism is a familial benign fibro-osseous disease of the jaws. On radiography, the lesions exhibit bilateral multinuclear radiolucent areas. Histopathology reveals multinucleated giant cells in the background of proliferating fibrous connective tissue. Mutations in the SH3BP2 gene are identified as the cause of cherubism. A 12-year-old girl with prominence of the lower face was investigated. Her chief complaint was her facial appearance with asymmetrical swelling of the cheeks. Clinical and radiographic examinations, and biopsy, biochemical analysis and genetic investigations were performed.
authors.affiliation: Department of Genetics, Faculty of Dental Medicine, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania; genetics.dentistry@gmail.com.
authors.forename: Octavian
authors.initials: O
authors.lastname: Dincă
authors.forename: Emilia
authors.initials: E
authors.lastname: Severin
authors.forename: Cristian
authors.initials: C
authors.lastname: Vlădan
authors.forename: Dana Cristina
authors.initials: DC
authors.lastname: Bodnar
authors.forename: Alexandru
authors.initials: A
authors.lastname: Bucur
mesh_terms: D001706:Biopsy; D002636:Cherubism / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D002648:Child; D005145:Face; D005190:Family; D005260:Female; D005820:Genetic Testing; D015726:Giant Cells / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D011859:Radiography; D017422:Sequence Analysis, DNA