Pediatric Skeletal Dysplasias: An Introduction

Skeletal dysplasias are generalized disorders with structural abnormality of bone and cartilage growth resulting in deformity. The vast majority of skeletal dysplasias are due to inherited genetic defects. The management of children with skeletal dysplasia is very challenging and requires a multidisciplinary approach. Several body systems may be simultaneously affected, and the management of the musculoskeletal issues may need to be delayed until other more critical medical needs are stabilized. The most important orthopedic concern should be the stability of the cervical spine. Instability has to be excluded in every case of skeletal dysplasia and, if present, needs to be addressed prior to other orthopedic abnormalities. Orthopedic treatment of skeletal dysplasias depends on many factors including the age of the patient, the severity of the deformities, the potential for growth, the symptomatology, the type of dysplasia (generalized, such as osteogenesis imperfecta, or localized, such as epiphysis, metaphysis, or diaphysis), the quality of the bone, any associated problems, and the impact of each deformity on the child’s function.