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Master Thesis

Le chérubisme : influence de la croissance dans la prise en charge

Abstract : Cherubism is an autosomal dominant genetic disease first described in 1933 by Jones. It is caused by the mutation of the gene SH3BP2 causing fibro-osseous lesions of the jaws giving the child a specific "chubby" feature. This is a rare disease of unknown prevalence, it would be less than 1/10000. This disease has the particularity to reach young children between 2 and 7 years old until puberty. Partial or complete spontaneous remission occurs after adolescence. Diagnosis is based on family history and age of onset of the disease and the clinical, radiological and histological aspects. Genetic tests are performed when the family history is not found. The treatment of choice is no treatment monitoring regular checks. However, in severe cases, the literature reports of surgical and drug therapies. This work is the subject of a systematic review of the literature to provide a therapeutic guide line based on the progress of the disease. An early and multidisciplinary treatment is important.
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Master Thesis
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Contributor : Frédérique Gambade <>
Submitted on : Friday, September 4, 2015 - 3:23:44 PM
Last modification on : Friday, October 23, 2020 - 4:46:13 PM
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  • HAL Id : dumas-01193136, version 1



Camille Boulé-Montpezat. Le chérubisme : influence de la croissance dans la prise en charge. Chirurgie. 2015. ⟨dumas-01193136⟩



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