title: PROGRESSIVE OSSIFYING FIBRODYSPLASIA: CASE REPORT.
abstract: Progressive ossifying fibrodysplasia is a rare genetic disease that affects one individual in every two million births. Its main consequence is heterotopic ossification, i.e. formation of additional bone in abnormal locations. It is an autosomal dominant disease, usually caused by a new mutation in the ACVR1 receptor gene, which is in the signaling pathway for bone morphogenic protein. This abnormality is not related to gender, ethnicity or consanguinity. The present study reports the case of A.C., a 17-year-old girl. Her clinical investigation began at the age of four years, but she was only diagnosed with FOP at the age of 15 years, after being evaluated by several specialists in different centers. The patient has two siblings, but her family history did not reveal any similar cases.
authors.affiliation: Sixth-year Medical Student at the School of Medicine of Universidade Federal do Rio Grande (FURG) - Rio Grande, RS, Brazil.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Romani
authors.affiliation: Professor of the Maternity and Children's Area of the School of Medicine of Universidade Federal de Rio Grande (FURG) - Rio Grande, RS, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: de Menezes Karam
keywords: ACVR1 Protein; Genetics; Heterotopic; Myositis Ossificans; Ossification