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The Noonan syndrome/cherubism association
C Dunlap1, B Neville, R A Vickers
1Department of Oral Pathology, University of Missouri, School of Dentistry, Kansas City.
Oral Surgery, Oral Medicine, and Oral Pathology
|June 1, 1989
Summary
Noonan syndrome, a genetic disorder, is often associated with cherubism, a jaw lesion. This study reports six cases linking these two rare conditions, suggesting a potential genetic connection.
Area of Science:
- Genetics
- Pediatrics
- Oral Medicine
Background:
- Noonan syndrome is a genetic disorder affecting multiple systems, with features including short stature and congenital heart disease.
- Cherubism is an autosomal dominant jaw lesion typically diagnosed by age seven.
- Cherubism has not been previously linked to other genetic disorders.
Observation:
- This report details four new patients diagnosed with both Noonan syndrome and cherubism.
- Two additional probable cases of concurrent Noonan syndrome and cherubism were identified in existing literature.
- A total of six cases linking Noonan syndrome and cherubism are now documented.
Findings:
- All four new patients with Noonan syndrome presented with cherubism.
- The co-occurrence of these two rare conditions was observed in six documented cases.
- This suggests a potential association between Noonan syndrome and cherubism.
Implications:
- The findings suggest a possible genetic link or shared etiology between Noonan syndrome and cherubism.
- Further research is warranted to explore the relationship between these two conditions.
- This association may impact the diagnostic and management strategies for patients presenting with either Noonan syndrome or cherubism.