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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

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Published on: September 20, 2018

Non Familial Cherubism: A Case Report.

Sunaina Singla¹, Ravi Narula¹, Rohit Goyal¹

¹Department Of Oral and Maxillofacial Surgery, Guru Nanak Dev Dental College& Research Institute, Sunam, 148028 Punjab India.

Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India

|November 20, 2019

Summary

Cherubism, a genetic disorder, can be inherited or occur sporadically. This case highlights a rare instance of solitary, non-familial cherubism, offering new insights into its varied presentation.

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Area of Science:

Genetics
Oral and Maxillofacial Surgery
Pediatric Dentistry

Background:

Cherubism is a rare genetic disorder characterized by bilateral, symmetrical, non-neoplastic enlargement of the jaw.
It typically follows an autosomal dominant inheritance pattern, often affecting multiple family members across generations.
However, sporadic, solitary cases also occur, though less frequently documented.

Purpose of the Study:

To report a case of solitary, sporadic cherubism.
To discuss the clinical course and management of this rare presentation.
To contribute to the literature on less common forms of cherubism.

Main Methods:

Clinical case presentation.
Review of relevant medical literature.

Keywords:

Cherubism Familial Fibro-osseous lesions Giant cells

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Main Results:

The study presents a case of cherubism occurring in a solitary, sporadic instance within a family.
This presentation represents a less documented form of the condition compared to familial inheritance patterns.
Treatment strategies are contingent upon the individual clinical progression of the disease.

Conclusions:

Solitary, sporadic cherubism is an infrequent manifestation of the disorder.
Understanding these rare occurrences is crucial for comprehensive diagnosis and management.
Further documentation of such cases can enhance knowledge of cherubism's diverse clinical spectrum.