CASE REPORT article
Front. Pediatr.
Sec. Pediatric Orthopedics
ACVR Mutation (NM_001105.4:c.774G>T (p.Arg258Ser)) in Pediatric Fibrodysplasia Ossificans Progressiva Complicated by Scoliosis: A Case Report
Provisionally accepted
- Gansu Provincial Hospital of TCM, Lanzhou, China
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This case report describes a 5-year-old female with fibrodysplasia ossificans progressiva (FOP), a rare and debilitating genetic disorder characterized by progressive heterotopic ossification. Initially misdiagnosed as an "aggressive chondroma" after two surgical resections, the patient developed recurrent paravertebral and iliopsoas ossification, culminating in severe functional impairment. Genetic testing confirmed a de novo pathogenic variant in the ACVR1 gene (NM_001105.4:c.774G>T; p.Arg258Ser). Management with NSAIDs and glucocorticoids yielded significant symptomatic improvement. This case underscores the critical importance of early genetic diagnosis to avert iatrogenic harm and guide appropriate conservative management.
Keywords: fibrodysplasia ossificans progressiva, heterotopic ossification, ACVR1 mutation, early diagnosis, Scoliosis
Received: 24 Nov 2025; Accepted: 28 Nov 2025.
Copyright: © 2025 Yang, Liu, Pei, Huang and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Fangjun Yang
Jin Huang
Huaming Wang
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