Background data: Our purpose was to describe the deformities, natural history, and course of treatment in chondrodysplasia punctata, a skeletal dysplasia characterized by stippled epiphysis in infancy, short stature, and progressive kyphoscoliosis.
Study design: We identified 20 patients (15 female, 5 male) with chondrodysplasia punctata and spinal abnormalities.
Results: The spinal deformity was rarely present in the neonatal radiographs but typically appeared during the first year. We identified three patterns of spinal deformity. The first was a C2 dentocentral synchondrosis separation, which was successfully fused. Scoliosis had two patterns: one slowly progressive without dysplastic vertebrae or significant kyphosis (two patients) and the other rapidly progressive with dysplastic vertebral bodies often appearing similar to a congenital kyphoscoliosis (17 patients). Follow-up averaged 7.9 years (range 2-20 years). The slowly progressive type was fused successfully with standard posterior techniques. The dysplastic type, however, required on average 2.5 procedures, including anteroposterior fusions, repeat fusions for pseudarthrosis repair, extension of the fusions for progression beyond the curves, and osteotomies for progression through the fusion mass. Unlike congenital deformities, they did not respond well to hemiepiphysiodesis.
Conclusion: Three types of spinal deformities were identified in children with chondrodysplasia punctata, including cervical bony disruption, a slowly progressive, nondysplastic scoliosis responding well to standard fusion techniques and a dysplastic kyphoscoliosis, which is rapidly progressive and resistant to fusion. The best results in dysplastic curves are obtained with an anterior strut graft and a posterior fusion. The patients must be observed long-term for further vertebral dysplasia and progressive kyphoscoliosis.