Atypical Fibrodysplasia Ossificans Progressiva in a child: A case report
Abdullah Noufal1, Yaman Alsharef2, Aya Abou Alainein2
1ASPU (AlSham Private University), Damascus, Syria.
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.
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