In 1933, Jones first described familial occurrence of painless enlargement of the jaws in three siblings. Later in 1938, Jones reported observations on the same family under the title “familial multilocular cystic disease of the jaws” and coined the term “cherubism” after the cherubs of Renaissance art for the full round cheeks and the upward cast of the eyes giving the children a peculiarly grotesque, cherubic appearance.
Cherubism is a benign maxillary bone dysplasia of childhood, usually showing an autosomal dominant inheritance with variable penetrance and spontaneously resolving after puberty. The prevalence of cherubism is 1 or less in 10,000.
Inheritance (Faircloth et al. 1991)
Autosomal dominant with variable penetrance
Familial in 80% of cases
Males affected twice as often as females
80% overall penetrance
100% in males
50–70% in females
Gene responsible for cherubism: mapped to...
KeywordsFibrous Dysplasia Preimplantation Genetic Diagnosis Giant Cell Tumor Noonan Syndrome Osteitis Fibrosa
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