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Ramon Syndrome- A Rare Form of Cherubism

L K Surej Kumar1, D S Deepa1, S Dilna1

  • 1Department of Oral and Maxillofacial Surgery, KIMS Hospital, Thiruvananthapuram, Kerala, India.

Annals of Maxillofacial Surgery
|January 8, 2020
PubMed

Insights

Cherubism, a rare genetic jaw disorder, can present with significant facial deformities. This case highlights Ramon syndrome, a rare variant, and its successful treatment in a child.

Area of Science:

  • Genetics and Developmental Biology
  • Pediatric Dentistry and Oral Surgery
  • Rare Diseases and Syndromes

Background:

  • Cherubism is an autosomal dominant inherited disorder characterized by painless, bilateral jaw swelling due to bone replacement with fibrous tissue.
  • Typically manifesting between 2-7 years of age, cherubism can lead to facial deformities and malocclusion.
  • Microscopic examination of cherubism lesions is indistinguishable from other giant cell lesions.

Observation:

  • Ramon syndrome is a rare condition associating cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis.
  • This report details a 6-year-old girl diagnosed with Ramon syndrome exhibiting extraordinary tissue enlargement over the teeth.
  • Clinical and radiographic features of the patient were meticulously documented.

Findings:

  • The patient presented with clinical and radiographic characteristics consistent with Ramon syndrome.
  • The case involved significant, unusual tissue enlargement impacting the teeth.
  • Successful treatment outcomes were achieved for the presented case.

Implications:

  • This case contributes to the understanding of rare genetic disorders affecting craniofacial development.
  • Successful management strategies for Ramon syndrome can inform future clinical practice.
  • Further research into the genetic and clinical spectrum of Ramon syndrome is warranted.

Keywords:
CherubismRamon syndromefibro-osseous lesions

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