Emily Johnson
Suburban New Jersey
9 Years old
Female
Developmental Milestone: Achieved early childhood milestones on schedule. Noted anomaly at birth: bilateral hallux valgus (congenitally malformed big toe).
Family History: No familial history of FOP; genotype of both parents is normal
Case Study Explained: FOP
Initial Presentation:
Emily was brought to the pediatric clinic in April 2023 with the chief complaint of increasing difficulty in neck movement and pronounced discomfort in both shoulder regions.
Current Symptoms:
- Stiffness and pain predominantly in the cervicothoracic region.
- Reduced range of motion in the shoulders and neck.
- Tender, palpable bony masses on the back and upper shoulders.
- Occurrence of low-grade fevers prior to symptoms escalating.
Physical Examination:
- Positive for distinct scoliosis emerging secondary to soft tissue ossification.
- Limited neck rotation (right to left - 5 degrees; up and down - 10 degrees).
- Palpable masses: nodular structures consistent with heterotopic bone formation.
- Examination of the feet revealed short, angulated great toes (duplicate digits).
- Cardiovascular, respiratory, and abdominal examinations were non-contributory.
Diagnostic Work-Up:
X-Rays (Cervicothoracic spine):
Heterotopic ossification detectable in paraspinal soft tissues; confirmed expanded ossific pattern.
Computed Tomography (CT):
3D reconstruction affirming mislocalized calcification around shoulder girdles without frank injury sequela.
Magnetic Resonance Imaging (MRI):
Further assessment identified no malignancy amidst ossified tissue.
​
Genetic Testing:
Sequencing of the ACVR1 gene revealed the characteristic R206H mutation.
​
Laboratory Work-Up:
Basic metabolic panel, calcium, phosphate, and alkaline phosphatase levels were all within normal limits.
- Inflammatory markers (CRP, ESR) mildly elevated during symptomatic flares.
​
Confirmed Diagnosis:
Based on clinical presentation, radiographic findings, and genetic testing, Emily was conclusively diagnosed with fibrodysplasia ossificans progressiva (FOP).
​
Multidisciplinary Care Team Formation:
Pediatrician, genetic counsellor, orthopedic specialist, physical therapist, and occupational therapist.
Development of an individualized management and rehabilitation plan.
​
Acute System Management:
Intensive management for pain and inflammation: NSAIDs initiated and short-course corticosteroids for acute, painful flare-ups.
​
Preventative Measures:
Detailed counselling on risk management aimed at minimizing trauma — a trigger for new ossification.