2012, Number 3
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ABSTRACTFibrodysplasia ossificans progressiva (FOP) is characterized by the progressive heterotopic ossification of connective tissue. The case we report herein is a female, 10 year-old patient with the clinical and radiologic characteristics of FOP. Upon birth she had toe deformities; during childhood she had limitation of neck rotation, and at 4 years of age she had swelling of the right scapular region and a biopsy was taken. She then had induration and calcification of the surgical site. She currently has cervical spine stiffness and multiple bone masses on the scapulas, the left axillary fold, the vertebral region and the iliac crest. Molecular studies were done with sequencing of the ACVR1 gene. Mutation p.Arg206His, a mutation associated with FOP, was found; it is the most frequent mutation found in this condition. The little knowledge that physicians have about this condition lead to missed diagnoses or improper management. Estimates show that there is one case per 2 million live births. The purpose of this study is to publish one more case, confirmed clinically, radiologically, and with molecular tests.
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