A 14-Year-Old Boy with Fibrodysplasia Ossificans Progressive: Phenotypic Characterization and Genetic Analysis

Abstract

Objective – The aim of this study was to report an ultra-rare genetic disease in a 14-year-old boy with abnormal ossification, to describe clinical phenotype and to expand the understanding of this genetic abnormality.

Case Report − The patient was born with hallux valgus. At five years of age diagnosis was made after he injured his shoulder and back and after extraskeletal ossification in muscle and soft tissue at the site of injuries. At 8 year of age after a fall radiological examination showed closed spiral-type fracture of the humeral shaft with dystrophic calcifications within the medial soft tissue. Audiometric testing indicated mild loss noted at 8 kHz in the right ear. At ten year of age the patient developed multiple bony ridges across his back. He had now lost almost completely control of his right arm and was locked at the shoulder and elbow.

Conclusion – Genetic analysis of patient’s DNA showed typical ACVR1/ALK2 gene mutation most likely de novo change that was not inherited from either parent.