Related Experiment Videos
Fibrodysplasia ossificans progressiva
E R Tonholo-Silva1, E A Adachi, M S Tafner
1Department of Pediatrics, Faculdade de Medicina de Marília (FMM), SP, Brasil.
Insights
Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare genetic disorder causing progressive ectopic ossification. This report details a 5-year-old female patient diagnosed with FOP based on clinical and radiological findings.
Area of Science:
- Genetics and Rare Diseases
- Orthopedics
- Medical Case Reports
Background:
- Fibrodysplasia (myositis) ossificans progressiva (FOP) is an extremely rare autosomal dominant genetic disorder.
- Characterized by progressive heterotopic ossification and congenital skeletal malformations, primarily affecting connective tissues like muscle.
- Ectopic ossification leads to progressive loss of mobility and function.
Abstract:
Fibrodysplasia (myositis) ossificans progressiva (FOP) is a rare autosomal dominant disorder in which there is a progressive ectopic ossification and skeletal malformation, mainly in the connective tissue of muscle. The diagnosis is based on the clinical findings and radiological demonstration of the skeletal malformations. We report a 5 year-old female case with FOP.