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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
Summary
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.
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