Dental abnormalities associated with campomelic syndrome: case report

Area of Science:

• Genetics and Rare Diseases
• Pediatric Dentistry
• Skeletal Dysplasias

Background:

• Campomelic syndrome is a rare autosomal recessive disorder.
• Characterized by significant skeletal anomalies, including lower limb bowing and facial hypoplasia.
• High infant mortality due to respiratory distress; survivors often have intellectual disability.

Observation:

• Presents a case study of a 13-year-old female diagnosed with campomelic syndrome.
• Focuses on the comprehensive dental treatment required for patients with this condition.
• Highlights the unique dental challenges posed by campomelic syndrome.

Findings:

• Details the specific dental anomalies observed in the patient.
• Describes the multidisciplinary approach to managing dental issues in campomelic syndrome.
• Illustrates successful dental interventions in a long-term survivor.

Implications:

• Underscores the importance of early dental evaluation in individuals with campomelic syndrome.
• Provides insights into tailored dental care strategies for rare skeletal dysplasias.
• Emphasizes the role of dental health in the overall quality of life for affected individuals.