Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V

Abstract EN

Swellings over the upper and lower limbs were encountered in a one-year-old child.

Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the forearm, femora, and to lesser extent the tibiae.

Neither wormian bones of the skull nor dentinogenesis imperfecta was present.

Genetic tests revealed absence of mutation in COL1A1 or COL1A2 genes, respectively.

The overall phenotypic features were consistent with the diagnosis of osteogenesis imperfecta type V (OI-V).

The aim of this paper is to distinguish between swellings because of intrinsic bone disorders and these due to child physical abuse.