Truncal shortening and limb contractures are often present. Bony changes are not apparent in newborns and develop as growth occurs. Fractures can occur in utero and during delivery. Trauma during delivery may lead to intracranial hemorrhage and stillbirth. Infants born alive may die suddenly during the first few days or weeks.
Survivors develop shortened extremities and other bony deformities.
Mental development is normal unless CNS injury occurs. The sclerae are thin, translucent, and appear blue. Hearing loss from otosclerosis may occur. Orthopedic treatment, physiotherapy, and occupational therapy are directed at preventing fractures and increasing function. Treatment with the bisphosphonate pamidronate given IV has been shown to increase bone mineral density and motor function and may decrease bone pain and bone resorption.