The cervical spine in the skeletal dysplasias and associated disorders

The cervical spine is an especially important area, not only for the diagnosis of the skeletal dysplasias, but also for the management of the patient. By the "cervical spine" I refer not only to the vertebral bodies and posterior elements of this region, but also to the neural elements contained within, especially the cervical cord. The spine is supported by a group of ligaments both anteriorly and posteriorly, with special fixation of the odontoid and C2 by a ligament which normally affixes it firmly to C1. Multiple things may go wrong with the development of the cervical spine. There may be abnormal development of the "vertebrae" in this region, ranging from hypoplasia to developmental failure and/or abnormal ossification of the cervical vertebrae; associated or unassociated odontoid hypoplasia; poor ligamental fixation of C2 resulting in C1-2 subluxation; abnormal development of the posterior processes; abnormal ligamental development or laxity with abnormal cervical kyphosis or lordosis; and, in the case of more fragile/brittle bone development (osteoporosis or increased bone density), fractures can lead to cervical spine problems. The skeletal dysplasias that involve cervical spine problems constitute about 35 of the 150 well-described disorders. These include certain families of disorders like the type II collagenopathies, as well as many individual disorders. It is very important for the clinician to be able to pilot patients through the various appropriate imaging modalities - conventional radiographs of the cervical spine; lateral flexion/extension views; CT; MRI - so that proper management and therapy will result.