Spinal Manifestations of Skeletal Dysplasias

Abstract

Skeletal dysplasias are a diverse group of conditions that effect cartilage and bone development. Although these conditions are rare, an estimated 2.3–7.6 per 10,000 population, spinal involvement is common. It is important to understand the developmental anatomy of the spine in the context of each skeletal dysplasia for effective management. Spinal problems include instability, sagittal and coronal deformity, and stenosis. Some deformities are transient: thoracolumbar kyphosis in achondroplasia which typically resolves at the onset of ambulation, and cervical kyphosis in dyastrophic dysplasia. Cervical instability and stenosis can be progressive and result in neurological injury. The management of progressive spinal deformity in children with skeletal dysplasia can be very challenging. Many of these children have short trunks and restrictive lung disease and the aim is to preserve spinal growth and manage the deformity, which can be very difficult. These children can have severe musculoskeletal problems but often the most life-threatening problems are outside of the musculoskeletal system and include cardiac, respiratory, immunological, and gastrointestinal issues. These must be managed successfully to assure a successful outcome. A coordinated, multidisciplinary team is essential for clinical effectiveness.