Cherubism: a rare case report with literature review.
Bone abnormality
Dysmorphism
Dysplasia
Genetic disorder
Journal
Radiology case reports
ISSN: 1930-0433
Titre abrégé: Radiol Case Rep
Pays: Netherlands
ID NLM: 101467888
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
03
07
2022
revised:
12
07
2022
accepted:
14
07
2022
entrez:
22
8
2022
pubmed:
23
8
2022
medline:
23
8
2022
Statut:
epublish
Résumé
Cherubism is an autosomal dominant disorder caused by a mutation of the gene encoding the binding protein SH3BP2. However, non-hereditary forms are observed, probably related to a de novo mutation. It is clinically manifested by an enlargement or a deformation of the jaw associated with a malposition of the teeth. In severe forms, these deformations can have a psychological impact, associated with ocular complications, as well as a reduction of the pharynx lumen and phonation disorders. The appearance of the lesions on imaging is not very specific, however it remains essential for the mapping of the lesions. We report a case of cherubism in a 12-year-old boy with no family history. This case report's objective is to identify the radiological aspect of this pathology and establish an early diagnosis to oriented therapeutic interventions.
Identifiants
pubmed: 35991385
doi: 10.1016/j.radcr.2022.07.063
pii: S1930-0433(22)00610-0
pmc: PMC9388877
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3971-3973Informations de copyright
© 2022 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
Références
J Otolaryngol. 1992 Apr;21(2):84-7
pubmed: 1583713
Pol J Radiol. 2012 Jul;77(3):53-7
pubmed: 23049582
BMJ Case Rep. 2014 Apr 02;2014:
pubmed: 24695657