TürkiyeDiagnosis and screening
10 patients with FOP at Hacettepe: four had a potentially harmful biopsy before diagnosis
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Hacettepe University studied 10 patients diagnosed with FOP. Nine had the most common gene change. All had a congenital malformation of the big toe. Four patients had had a biopsy before diagnosis. Swellings on the scalp may be an early clue. One patient had a particular structural difference in the brainstem.
What does it mean for patients and families?
In FOP, procedures such as biopsies and injections can trigger bone formation. FOP should be considered in a child with a malformed big toe. The diagnosis is confirmed by genetic testing.
Source
Scientific paper: Fibrodysplasia ossificans progressiva in children: diagnostic pitfalls and ACVR1 genotype-phenotype spectrum. European Journal of Pediatrics, 2026. DOI: 10.1007/s00431-026-06974-8 · PubMed 42068419
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Fibrodysplasia ossificans progressiva (FOP)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.