[Genetic aspects of cherubism].

INTRODUCTION: Cherubism is an extensive kystic process of the mandibula. The diagnosis is often established in children presented swelling of the jaws. The familial determinism of cherubism is well-known, and recently autosomal dominant cases have been described with detection of the exon 9 - SH3BP2 mutation. OBSERVATION: We describe the case of a 14-year-old boy with grade I cherubism diagnosed late. The familial genomic analyze conducted in Berlin was negative for the recently identified candidate gene. DISCUSSION: Apart from dominant cases cherubism sometimes occurs sporadically, some of the cases resulting from a neomutation of the candidate gene. The present case with familial bone homeostasis and dental disorders is an argument for the recessive transmission hypothesis or for another candidate gene.