Spinal Deformity in Children With Achondroplasia

Achondroplasia is the most common inherited bone dysplasia. Involvement of the spine can be divided into 3 different abnormalities that present in 3 different age groups. Cervicomedullary stenosis may present in the newborn and infantile periods with sleep apnea and feeding difficulty. Although indications for decompression remain controversial, surgery is necessary in severely involved babies with abnormal cord signal on magnetic resonance imaging. Thoracolumbar kyphosis becomes noticeable in the older infant, and typically resolves shortly after the child becomes ambulatory. Bracing may be helpful in some children, and surgery is required in refractory cases. Abnormalities in growth lead to significant narrowing of the thoracolumbar and lumbar spinal canal. Although lumbar stenosis usually presents in adulthood, it may present in later childhood or adolescence with back and leg pain or urologic symptoms. Treatment of symptomatic stenosis consists of wide decompression with concomitant fusion.