clinical features

Last reviewed 01/2018

In type III osteogenesis imperfecta the child may be born with fractures and the skull may be well ossified. The sclerae are white, and there may be dentinogenesis imperfecta. The neonate has relative macrocephaly and triangular faces

Growth is severely stunted, with extreme short stature from the first year of life.

Repeated fractures occur during childhood and there is progressive deformity of the limbs and spine. There may be kyphoscoliosis that is severe enough to compromise respiratory function.

The child with osteogenesis imperfecta type III is of extremely short stature.