The Spine in skeletal dysplasia

Abstract

The skeletal dysplasias are a group of diseases characterized by an intrinsic abnormality in bone form. The clinical presentation is usually short stature, but there is tremendous variability in the degree of this and other disabilities encountered. The spine is frequently involved and the disturbances can in general be categorized as stenosis, deformity, or instability. The instability involves the upper cervical spine, and surgical stabilization is often required to prevent spinal cord injury. Stenosis can occur at the foramen magnum, the cervical or lumbar spine, and may also produce neurological impairment. The deformity takes the form of scoliosis or, quite frequently, kyphosis. The clinician must anticipate the known associations with the various dysplasias and perform appropriate diagnostic screening procedures. Activity can then by customized to ensure participation and safety.