Atypical Fibrodysplasia Ossificans Progressiva in a child: A case report.

INTRODUCTION AND

IMPORTANCE

Fibrodysplasia Ossificans Progressiva (FOP) is an exceptionally rare genetic disorder characterized by progressive heterotopic ossification of soft tissues and congenital skeletal anomalies.

CASE PRESENTATION: This report presents the case of a 12-year-old boy with hallmark features of FOP alongside rare congenital abnormalities, including bilateral microdactyly and thumb adhesion to the palms.

CLINICAL DISCUSSION: Initially misdiagnosed as muscular dystrophy, the patient's condition deteriorated under inappropriate management. Genetic testing confirmed a heterozygous mutation (c.617G > A; p.R206H) in the ACVR1 gene.

CONCLUSION

This case highlights the importance of early recognition of atypical congenital malformations in FOP, the risks of invasive interventions, and the necessity for genetic confirmation to prevent iatrogenic harm. A comprehensive review of the literature is also provided.