Usually presents in infancy or childhood. Twenty percent have fractures at or near birth. Due to abnormal formation of osteoid, matrix, and collagen and associated with osteoblastic dysfunction. Usually autosomal dominant but often due to spontaneous mutations. Fractures have exuberant callus formation when healing.
Bones have thin cortices and the bone is osteopenic with a decreased trabecular pattern.
Vertebral body osteopenia leads to biconcave compression deformities. Wormian bones are present. See References Chapter. All rights reserved.