Related Experiment Videos
[Cleidocranial dysostosis. Presentation of a clinical case]
Minerva Ortognatodontica
|July 1, 1989
Insights
Cleidocranial dysostosis syndrome is a rare genetic disorder affecting bone development. This case report details a 14-year-old boy
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- Cleidocranial dysostosis (CCD) is an autosomal dominant skeletal disorder.
- Characterized by hypoplastic or absent clavicles, delayed fontanelle closure, and dental anomalies.
- Genetic mutations in the RUNX2 gene are the primary cause.
Observation:
- A 14-year-old male patient presented with a history of congenital skeletal abnormalities.
- Clinical examination revealed characteristic features of cleidocranial dysostosis.
- Radiological imaging confirmed the skeletal defects.
Findings:
- Detailed presentation of the aetiopathogenetic, clinical, radiological, and therapeutic aspects of CCD.
- The case report provides an in-depth look at the syndrome's manifestation in a pediatric patient.
- Highlights the long-term observation and management challenges.
Implications:
- Enhances understanding of cleidocranial dysostosis syndrome's natural history.
- Informs clinical diagnosis and management strategies for affected individuals.
- Contributes to the literature on rare skeletal dysplasias and genetic disorders.
Abstract:
After presenting the aetiopathogenetic, clinical, radiological and therapeutic aspects of cleidocranial dysostosis syndrome, a case is reported. The patient, a boy of 14, was the subject of examination since birth.