A Case of Fibrodysplasia Ossificans Progressiva in a 5-year-old Boy with all Musculoskeletal Features and Review of the Literature.
Tarih
2018Yazar
Uyguner, Zehra Oya
Toksoy, Güven
Kılıç, Ayşe
Bilgili, Fuat
Civan, Melih
Üst veri
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Introduction: Fibrodysplasia
ossificans progressiva previously known as myositis ossificans
progressiva is a rare connective tissue disorder with autosomal dominant
genetic inheritance. Patients develop heterotrophic ossification
starting with the first decade of life. Diagnosis is extremely difficult
until ossifications are visible.Case Report: We report a
case of fibrodysplasia ossificans progressiva in a 5-year-old boy who
has characteristic extracapsular joint movement limitation with
bilateral great toe malformation. Before clinical suspicion and genetic
confirmation, the patient had undergone various medical tests including
biopsy. The patient was diagnosed by the help of characteristic great
toe malformations with the help of X-ray taken after ossification signs
revealed.Conclusion: Fibrodysplasia ossificans
progressiva is an unforgiving disease. Late diagnosis can lead the
physicians to perform additional invasive test and restrains patients to
avoid the exposure of more daily trauma. Although there is no treatment
for the disease in current literature, we believe with the
characteristic features, it could be diagnosed in short notice and
managed properly.KEYWORDS: Diagnosis; Fibrodysplasia; Hallux valgus; Ossification
Bağlantı
http://hdl.handle.net/20.500.12627/67741https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367301/pdf/JOCR-8-36.pdf
https://doi.org/10.13107/jocr.2250-0685.1200
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