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Familial cherubism: clinical and radiological features. Case report and review of the literature
 

Type:  Articles

Pubblication date:  07/2018

Authors:  W. Sidorowicz, P. Kubasiewicz-Ross, M. Dominiak

Language:  English

Institution:  Department of Oral Surgery, Wroclaw Medical University, Poland

Publication:  European Journal of Paediatic Dentistry

Publisher:  Ariesdue Srl

Keywords:  Cherubism; Genetic disease; Radiographic analysis.

Email:  wiktor.sidorowicz1987@gmail.com


Title:  Familial cherubism: clinical and radiological features. Case report and review of the literature

Abstract:  Background Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The authors present the case of an 11-year old boy showing bilateral enlargement of the mandible. Case report Computer tomography evidenced the presence of characteristic cherubism changes. The genetic test confirmed heterozygote mutation c.1244G>A (p.R415Q) in second exon coding sequence of SH3BP2 gene. Radiographic examinations performed on some close relatives of the patient revealed typical changes. The patient did not require any surgical treatment and the “wait and see” protocol was applied.

 
 
 
 
 
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