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.