Search results for "Cherubism"

showing 2 items of 2 documents

A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature

2014

Objectives: The present study was aimed at advancing the understanding of the pathogenesis of cherubism by presenting a case study based on history, physical examination, typical radiological features, molecular and histo - pathological laboratory tests and a review of the literature. Study Design: This study began with a 7-year-old boy who was referred due to mandibular overgrowth. A pan - oramic radiograph revealed multilocular radiolucent lesions of the upper/lower jaws suggestive of cherubism. Overall, a total of four family members were tested for SH3BP2 mutations, namely two siblings and their parents. Both siblings had been clinically diagnosed with cherubism; however, the parents we…

MalePathologymedicine.medical_specialtyTurkeyPhysical examinationOdontologíaDiseaseExonSH3BP2medicineMissense mutationHumansChildGeneral DentistryPathologicalGenetic associationAdaptor Proteins Signal TransducingOral Medicine and Pathologymedicine.diagnostic_testbusiness.industryResearchCherubismmedicine.disease:CIENCIAS MÉDICAS [UNESCO]DermatologyCiencias de la saludCherubismPedigreePhenotypeOtorhinolaryngologyChild PreschoolMutationUNESCO::CIENCIAS MÉDICASSurgeryFemalebusiness
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Clinicopathologic conference: Multiquadrant expansile fibro-osseous lesion in a juvenile

2011

This paper intends to present clinical, radiologic, and histopathologic features of a case of gigantiform cementoma manifesting in a 14-year-old boy, without any familial involvement. He has been followed for 3 years. Further cases from the literature have been reviewed that confirm a similar clinicopathologic picture. This is the first case report that describes "non-familial gigantiform cementoma" after the World Health Organisation's classification of 2005.

Malemedicine.medical_specialtyPathologyAdolescentFibro osseous lesionWorld healthPathology and Forensic MedicineDiagnosis DifferentialmedicineHumansRadiology Nuclear Medicine and imagingDentistry (miscellaneous)Watchful WaitingCementomabusiness.industryCherubismOsteomyelitisFibrous Dysplasia of BoneExanthemamedicine.diseaseJaw NeoplasmsDermatologyFibroma OssifyingSurgeryOral SurgeryGigantiform cementomabusinessOral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
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