Craniosynostosis in cherubism

Stiller, Michael; Urban, Maik; Golder, W.; Tiziani, Valdenize; Reichenberger, Ernst; Frege, J; Opitz, Ch.; Peters, Hartmut

doi:10.1002/1096-8628(20001211)95:4<325::aid-ajmg6>3.0.co;2-r

Cited by 21 publications

(6 citation statements)

References 25 publications

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“…Cherubism with co-expressed craniosynostosis and clubbed fingers has been described in a single family [15,16], However, it is not clear whether the appearance of these phenotypes is coincidental or associated with cherubism. Extracranial involvement is extremely rare and most cases have not been confirmed by genetic testing.…”

Section: Extracranial Involvementmentioning

confidence: 99%

Section: Diagnostic Considerations and Differential Diagnosismentioning

confidence: 99%

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Cherubism: best clinical practice

Papadaki

Lietman

Levine

et al. 2012

Orphanet J Rare Dis

156

183

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Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth. Swelling of the jaws usually appears between 2 and 7 years of age, after which, lesions proliferate and increase in size until puberty. The lesions subsequently begin to regress, fill with bone and remodel until age 30, when they are frequently not detectable.Fibro-osseous lesions, including those in cherubism have been classified as quiescent, non-aggressive and aggressive on the basis of clinical behavior and radiographic findings. Quiescent cherubic lesions are usually seen in older patients and do not demonstrate progressive growth. Non-aggressive lesions are most frequently present in teenagers. Lesions in the aggressive form of cherubism occur in young children and are large, rapidly growing and may cause tooth displacement, root resorption, thinning and perforation of cortical bone.Because cherubism is usually self-limiting, operative treatment may not be necessary. Longitudinal observation and follow-up is the initial management in most cases. Surgical intervention with curettage, contouring or resection may be indicated for functional or aesthetic reasons. Surgical procedures are usually performed when the disease becomes quiescent. Aggressive lesions that cause severe functional problems such as airway obstruction justify early surgical intervention.

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Section: Extracranial Involvementmentioning

confidence: 99%

Section: Diagnostic Considerations and Differential Diagnosismentioning

confidence: 99%

Cherubism: best clinical practice

Papadaki

Lietman

Levine

et al. 2012

Orphanet J Rare Dis

156

183

View full text Add to dashboard Cite

show abstract

“…Cases of cherubism associated with other disorders such as fragile X syndrome, gingival fibromatosis with psychomotor retardation, neurofibromatosis type 1, and craniosynostosis have been published in the literature [10][11][12]. Cherubism has also been reported to be associated with Ramon syndrome [13] and Jaffe-Campanacci syndrome [10]. Ramon syndrome is extremely rare with only eight cases reported in the literature and presents with mental retardation, short stature, gingival fibromatosis and epilepsy [13,14].…”

Section: Discussionmentioning

confidence: 99%

Cherubism: A Case Report

Degala

Mahesh

Monalisha³

2013

J. Maxillofac. Oral Surg.

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Cherubism is a benign, self-limiting fibro-osseous lesion characterized by bilateral symmetric painless expansion of jaw which is more prominent in mandible than in maxilla. Males are commonly affected (2:1) and with greater severity. It becomes noticeable in early childhood and gradually regresses after puberty. Although cherubism is considered as a familial/inherited disease but many sporadic cases have been reported in literature with no familial history. Osteoblastic and osteoclastic remodeling replaces normal bone by excessive amount of fibrovascular tissue containing multinucleated giant cells. Here, we present a case report of cherubism in a 10 year old boy describing the clinical, histological, biochemical and radiographic features.

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“…reported cherubism in a patient with craniosynostosis and clubbing of the fingers. 3 Symptoms and signs depend on the severity of the condition and range from mild to severe deformity of the jaws.…”

Section: Case Reportmentioning

confidence: 99%

“…The affected jaw begins to swell in early childhood and increases until puberty after which it does not progress further. 3 In some cases the bone lesion regresses without treatment. 2 Clinical manifestations are variable with deforming lesions of the maxilla and mandible, including the coronoids and condyles.…”

Section: Introductionmentioning

confidence: 99%

Cherubism: Review of four affected members in a Kuwaiti family

Petkovska

Ramadan

Aslam

2004

Australasian Radiology

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Cherubism is a rare autosomal dominant fibro-osseous disorder of childhood, mostly limited to the maxilla and mandible. Extra-cranial skeletal involvement is rare. Post-pubertal involution of the process and jaw remodeling occurs in adulthood. The aim of this case report is to present four cherubs, a father and his three daughters, in whom the diagnosis was made based on history, physical examination, laboratory tests and typical radiological features. The imaging characteristics are discussed and the published literature is reviewed.

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Craniosynostosis in cherubism

Cited by 21 publications

References 25 publications

Cherubism: best clinical practice

Cherubism: best clinical practice

Cherubism: A Case Report

Cherubism: Review of four affected members in a Kuwaiti family

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