Publication:

Imaging insights into ACVR-1-linked ossification syndrome

Fibrodysplasia ossificans progressiva is a rare autosomal dominant genetic disorder (ACVR-1 gene) with a prevalence of 1 in 2 million births. It is characterized by heterotopic progressive ossification in connective tissues and between osseous structures. Congenital malformation of the great toes is a pathognomic association. Herein this repost presents a case of a thirteen-year-old girl who presented with difficulty in walking for one year. She had short bilateral great toes and had an abnormal gait. Radiographs followed by computed tomography (CT) of the bilateral hip joint showed soft tissue ossification around the hip joint with bilateral coxa valga. Magnetic resonance imaging of the bilateral hip was also done, which showed intramuscular edema in the left gluteus medius and maximus. Early diagnosis and identification of this disease with imaging is important to prevent unnecessary biopsies and surgical intervention.