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[Jaffe-Campanacci syndrome. Report of a case]
C Boivin1, J B Kerbrat, C Michot
1Service d'Anatomie Pathologique, Hôpital Charles Nicolle, Rouen.
Annales De Pathologie
|January 1, 1994
Summary
Jaffe-Campanacci syndrome, a rare condition with bone and congenital anomalies, was identified incidentally during orthodontic treatment. This case highlights the syndrome
Area of Science:
- Genetics and rare diseases
- Skeletal dysplasias
- Congenital anomalies
Background:
- Jaffe-Campanacci syndrome is a rare genetic disorder.
- It is characterized by non-ossifying fibromas and extraskeletal congenital anomalies.
- Pathological fractures are a common presenting symptom.
Observation:
- A case of Jaffe-Campanacci syndrome was diagnosed during an orthodontic examination.
- The patient presented with previously undescribed extraskeletal anomalies.
- This incidental discovery suggests potential underdiagnosis of the syndrome.
Findings:
- Disseminated non-ossifying fibromas were observed.
- Multiple extraskeletal congenital anomalies affecting cutaneous, genital, ocular, and cardiovascular systems were noted.
- Mental retardation was also a feature in this case.
Implications:
- Early recognition of Jaffe-Campanacci syndrome is crucial for timely management.
- Orthodontic evaluations may provide an unexpected opportunity for syndrome diagnosis.
- The true incidence of Jaffe-Campanacci syndrome may be underestimated due to unrecognized features.