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To observe the natural history of cherubism.
The investigators will take a history and examine patients with cherubism to determine the natural history of the disease. The investigators also may take skin or blood samples (IRB approved 7256) from patients to learn more about this disorder.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| cherubism patients | no interventions |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| no interventions | Other | no interventions |
|
| Measure | Description | Time Frame |
|---|---|---|
| Disease progression | We will take a history and examine patients with cherubism and look for disease progression. | 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| patient growth | We will measure height and weight | 10 years |
| bone abnormalities | We will take panorex radiographs. | 10 years |
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Inclusion Criteria:
patients with cherubism
Exclusion Criteria:
patients without cherubism
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We will see patients with cherubism
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| Name | Affiliation | Role |
|---|---|---|
| Steven Lietman | The Cleveland Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cleveland Clinic | Cleveland | Ohio | 44195 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 16786512 | Background | Lietman SA, Kalinchinko N, Deng X, Kohanski R, Levine MA. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Hum Mutat. 2006 Jul;27(7):717-8. doi: 10.1002/humu.9433. | |
| 22820184 | Background | Fan C, Gaivin RJ, Marth TA, Willard B, Levine MA, Lietman SA. Cloning and characterization of the human SH3BP2 promoter. Biochem Biophys Res Commun. 2012 Aug 17;425(1):25-32. doi: 10.1016/j.bbrc.2012.07.043. Epub 2012 Jul 17. |
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There is no plan to share IPD.
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| ID | Term |
|---|---|
| D002636 | Cherubism |
| D001859 | Bone Neoplasms |
| ID | Term |
|---|---|
| D005357 | Fibrous Dysplasia of Bone |
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
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We may take blood or skin samples.
| 22640988 | Background | Reichenberger EJ, Levine MA, Olsen BR, Papadaki ME, Lietman SA. The role of SH3BP2 in the pathophysiology of cherubism. Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S5. doi: 10.1186/1750-1172-7-S1-S5. Epub 2012 May 24. |
| D009140 | Musculoskeletal Diseases |
| D007571 | Jaw Diseases |
| D009057 | Stomatognathic Diseases |
| D019767 | Maxillofacial Abnormalities |
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |