Pathology · single question

What is the hereditary pattern of Cherubism?

  1. Autosomal recessive
  2. X-linked recessive
  3. Autosomal dominant
  4. Mitochondrial inheritance
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Correct answer: C. Autosomal dominant

Cherubism is inherited in an autosomal dominant pattern, caused by mutations in the SH3BP2 gene on chromosome 4p16.3. It presents in early childhood with bilateral, symmetric, painless expansion of the mandible (and sometimes maxilla), giving the characteristic 'cherub' appearance. The jaw expansion is due to fibrous tissue replacement of bone. It is self-limiting and often regresses after puberty.

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