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Fibrodysplasia ossificants progressiva
Insights
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder causing ectopic ossification in connective tissues. This report details two female cases presenting since birth with characteristic toe/thumb anomalies and widespread tissue ossification.
Area of Science:
- Medical Genetics
- Orthopedics
- Rheumatology
Background:
- Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder characterized by progressive heterotopic ossification.
- The condition affects connective tissues, leading to bone formation in muscles, tendons, and ligaments.
Abstract:
Two cases of fibrodysplasia ossificans progressiva are reported. Both patients were females and had suffered from the disease since birth. The characteristic anomalies of great toes and thumbs associated with multiple ectopic ossifications of the connective tissue are described. Fasciae, tendons, ligaments, and joint capsules of the proximal parts of the extremities and the dorsal aspect of the trunk were involved. The muscle atrophy was probably a secondary phenomenon.