Here we present two cases of familial cherubism, uncle and nephew (hereinafter, Patient 1 and 2, respectively) (Figure 1), with variable clinical involvement (“Expressivity”), together with the radiological description and the molecular confirmation of the case through the detection of a mutation in gene SH3BP2 (SH3-domain binding protein 2). The gene discussed is SH3BP2; the disease is cherubism.