Evidence map›Paper›PMID 22640403›Full record

ReviewOrphanet journal of rare diseases2012

Cherubism: best clinical practice.

Maria E Papadaki, Steven A Lietman, Michael A Levine, Bjorn R Olsen, Leonard B Kaban, Ernst J Reichenberger

Registry-linked trialOpen access · goldAbstract readReview
In one paragraph

Review in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01630447 (Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms), which is not on this map. Cited by 72 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 2 pooled it
9.3field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT01630447 recruitingnot on this map

Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

TypeobservationalSponsorUConn HealthRan2009 to 2030Enrolled600ConditionsCherubism
3 · Its place in the literature

Who cites it

72 citing papers in PubMed, 2 syntheses or guidelines pooled it, 197 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Article
  6. Cherubism: An African-Focused Review.Children (Basel, Switzerland) · 2026
    Review
  7. Oral and Craniofacial Development and Immunology.Advances in experimental medicine and biology · 2026
    Review
  8. Article
  9. Article
  10. Review
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Loss-of-functionJBMR plus · 2024
    Article
  18. Article
  19. Review
  20. Article

12 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 5 institutions in 1 country.

Maria E PapadakiDepartment of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Harvard School of Dental Medicine, Boston, MA, USA.
Steven A Lietman
Michael A Levine
Bjorn R Olsen
Leonard B Kaban
Ernst J Reichenberger
Massachusetts General Hospital · USCleveland Clinic Lerner College of Medicine · USHarvard University · USUConn Health · USUniversity of Pennsylvania · US

Funding

STRUCTURE OF TYPE I AND TYPE II PROCOLLAGENSR01AR036819 · NIAMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI OLSEN, BJORN REINO · 1986 to 2016
$8.7M
COLLAGEN GENE STRUCTURE AND EXPRESSIONR01AR036820 · NIAMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI OLSEN, BJORN REINO · 1986 to 2013
$6.7M
NIAMS NIH HHS R01 AR036819NIAMS NIH HHS R01 AR036820
6 · The paper itself

Abstract

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.

Indexed as

Adaptor Proteins, Signal TransducingBiomarkersCherubismDiagnosis, DifferentialGenetic CounselingGenetic TestingHumansJawLymph NodesMutationNoonan SyndromeSeverity of Illness IndexAdaptor Proteins, Signal TransducingBiomarkersSH3BP2 protein, human

Identifiers

PMID22640403
PMCPMC3359956
OpenAlexW2167798404

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.