Reference work entry

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.

Genetics/Basic Defects

  1. 1.
    Inheritance (Faircloth et al. 1991)
    1. a.

      Autosomal dominant with variable penetrance

    2. b.

      Familial in 80% of cases

    3. c.

      Males affected twice as often as females

    4. d.
      80% overall penetrance
      1. i.

        100% in males

      2. ii.

        50–70% in females

    5. e.

      Variable expressivity

  2. 2.
    1. a.

      Gene responsible for cherubism: mapped to...


Fibrous Dysplasia Preimplantation Genetic Diagnosis Giant Cell Tumor Noonan Syndrome Osteitis Fibrosa 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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