Spinal manifestations of skeletal dysplasias

Skeletal dysplasias, disorders of abnormal bone and cartilage development, are a heterogeneous group, each disorder with its own genetics, prevalence, prognosis, and treatment. More than 150 distinct conditions have been identified. Despite their obvious differences, the osteochondrodysplasias share many clinical and radiographic features. These patients present to the orthopedic surgeon for evaluation of disproportionate short stature, which may be apparent at birth or manifest itself only with further growth. This article discusses bone dysplasias commonly associated with spinal abnormalities. Spinal pathology can lead to deformity, neurologic sequelae, pain, and cardiopulmonary compromise and further contribute to short stature.