Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report
Open Access
- 11 December 2009
- journal article
- case report
- Published by Springer Science and Business Media LLC in Head and Neck Pathology
- Vol. 4 (2), 126-131
- https://doi.org/10.1007/s12105-009-0155-9
Abstract
Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.Keywords
This publication has 40 references indexed in Scilit:
- Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overviewClinical Dysmorphology, 2009
- Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jawBritish Journal of Oral and Maxillofacial Surgery, 2008
- Neurofibromatosis presenting with a cherubism phenotypeEuropean Journal of Pediatrics, 2006
- Clinicopathologic study of 24 cases of cherubismInternational Journal of Oral & Maxillofacial Surgery, 2005
- The Gene for Cherubism Maps to Chromosome 4p16.3American Journal of Human Genetics, 1999
- Gingival Fibromatosis Combined With Cherubism and Psychomotor Retardation: A Rare SyndromeThe Journal of Periodontology, 1999
- Gingival fibromatosis and Klippel-Trénaunay-Weber syndrome: Case reportOral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 1995
- Idiopathic Familial Gingival Fibromatosis Associated with Mental Retardation, Epilepsy and HypertrichosisDevelopmental Medicine and Child Neurology, 1989
- Cherubism and Its Orbital ManifestationsOphthalmic Plastic & Reconstructive Surgery, 1989
- Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritisAmerican Journal of Medical Genetics, 1986