Article
Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans.
Boletin medico del Hospital Infantil de Mexico - 3 May 2021
Ordóñez-Labastida Vianey, Cárdenas-Conejo Alan, Huicochea-Montiel Juan C, Paredez-Rivera Guadalupe E, Hidalgo-Bravo Alberto, Monterde-Cruz Lucero M J, Aráujo-Solís María A
Abstract excerpt
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...
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