American Journal of Roentgenology · 2004 · 92 citations · 8 references
DentistryOral RadiologyRadiologyDental RadiologyMaxillofacial ImagingRadiographic AnatomyDental ImagingFacial Bone RadiographyMandibular AnatomyMandibular RadiographyMaxillofacial RadiographyRadiological AnatomyFacial BonesJaw Bone LesionsJaw Radiographic AnatomyMandibular Radiographic AnatomyRadiologic ImagingRadiologic MimicsRadiolucent LesionsTrabecular Bone Pattern Assessment
OBJECTIVE: We sought to describe the radiographic and imaging features of cherubism. CONCLUSION: Cherubism is a rare osseous disorder of children and adolescents. Although the radiologic characteristics of cherubism are not pathognomonic, the diagnosis is strongly suggested by bilateral relatively symmetric jaw involvement that is limited to the maxilla and mandible. Imaging typically shows expansile remodeling of the involved bones, thinning of the cortexes, and multilocular radiolucencies with a coarse trabecular pattern.
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Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
Yasuyoshi Ueki, Valdenize Tiziani, Carla Santanna et al. · Nature Genetics · 2001 · 385 citations
The Gene for Cherubism Maps to Chromosome 4p16.3
Jonathan Mangion, Nazneen Rahman, Sarah Edkins et al. · The American Journal of Human Genetics · 1999 · 161 citations · Full text
The Gene for Cherubism Maps to Chromosome 4p16
Valdenize Tiziani, Ernst Reichenberger, Celso Luiz Buzzo et al. · The American Journal of Human Genetics · 1999 · 160 citations · Full text