Bol Med Hosp Infant Mex 2021 May 3. Epub 2021 May 3.
Departamento de Genética, Unidad Médica de Alta Especialidad Hospital de Pediatría Dr. Silvestre Frenk Freund, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (IMSS), Mexico City, Mexico.
Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually secondary to trauma. The ossification foci generate pain, joint ankyloses, and restricted movement. Congenital shortening and medial deviation first metatarsal of the foot is a distinctive feature. Read More