Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report

Head Neck Pathol. 2010 Jun;4(2):126-31. doi: 10.1007/s12105-009-0155-9. Epub 2009 Dec 11.

Abstract

Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Cherubism / diagnosis*
  • Cherubism / genetics
  • Child
  • Epilepsy / diagnosis*
  • Epilepsy / genetics
  • Female
  • Fibromatosis, Gingival / diagnosis*
  • Fibromatosis, Gingival / genetics
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Syndrome