ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report
Fangjun Yang, Miaomiao Liu, Shengtai Pei, Jin Huang, Huaming Wang · 2025
Read ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report by Fangjun Yang, Miaomiao Liu, Shengtai Pei, Jin Huang, Huaming Wang (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12745445.txt.
Description
Fangjun Yang and four co-authors report a 2025 case of a rare bone disease in a young child. The girl, aged five, has a condition where soft tissue slowly turns to bone. She was first misread as having an aggressive growth and had two operations. New bone then formed near her spine and hip, and movement grew hard.
Gene testing found a fresh change in a gene that guides bone growth. That result confirmed the true diagnosis and changed her care. Drugs for pain and swelling brought clear relief of her symptoms. Surgery in this disease can spark more bone growth, so early gene testing matters. The case also involves a curved spine, which adds to the care burden. The authors urge doctors to test early when the signs fit.
Catalog record
| CREATOR | Fangjun Yang, Miaomiao Liu, Shengtai Pei, Jin Huang, Huaming Wang |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |