Osteogenesis imperfecta type V: About a clinical case

Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder. It is characterized by short stature, fragility and decreased bone mass, which leads to multiple and recurrent fractures after low-energy trauma, which generates susceptibility to long bone deformity and vertebral compression. There are several types of OI, with types I to IV, in which the COL1A1 and COL1A2 genes are affected, being the most frequent. In recent years, the discovery of new forms of OI has led to research into the pathways critical aspects of bone metabolism, with new genes involved being identified. The mutation in IFITM5 has been identified as the cause of OI type V, of autosomal dominant inheritance. OI type V has distinctive clinical features including the development of hypertrophic callus after fracture, early calcification of the interosseous membrane in the forearm, and the presence of hyperdense metaphyseal bands.

The case of a patient with a novo mutation in IFITM5 is presented.