Spinal Deformity in Chondryodysplasia Punctata

Shriners Hospitals for Children, Erie, PA
AI Dupont Institute, Wilmington, DE
Twin Cities Spine Center, Minneapolis, MN, USA

PURPOSE:
Our purpose was to describe the deformities, natural history and the course of treatment in chondrodysplasia punctata, a skeletal dysplasia classified into several subtypes, which can be fatal in infancy and is characterized by stippled epiphysis in infancy, short stature, and progressive kyphoscoliosis.

METHODS:
We retrospectively reviewed 20 patients (15 female, 5 male) with chondrodysplasia punctata and spinal abnormalities. Common characteristics included limb length discrepancy, coxa vara, sparse hair, depressed nasal bridge, congenital heart disease, and opthomological abnormalities.

RESULTS:
The spinal deformity was rarely present in the neonatal radiographs but typically appeared during the first year of life. Average age at presentation was 1.1 years. One boy's isolated spinal abnormality was a C2 spondylolysthesis. This was successfully fused and is not included in the remainder of the results. We observed two other distinctive patterns, one slowly progressive without dysplastic vertebrae or significant kyphosis (2 patients), and the other rapidly progressive with dysplastic vertebral bodies that often appeared similar to a congenital kyphoscoliosis (17 patients). These dysplastic vertebrae often appeared normal on early radiographs. The average age at first surgery was 4.6 years. The average age at first surgery for the slowly progressive type was 11.8 years and 3.7 years for the dysplastic type.

Follow-up averaged 7.9 years (range 2-20 years). The average curves preoperatively were 62º scoliosis and 63º kyphosis in the dysplastic patients and 54º and 38º respectively in the slowly progressive patients. The apices of the kyphosis ranged from T5-T12, and the apices of the primary scoliosis from T3 to the thoracolumbar junction. The slowly progressive type was fused successfully with standard posterior techniques. The dysplastic type, however, required on average 2.3 procedures including anterior and posterior 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 hemiepiphyseodesis. Average curve size at follow up for the slowly progressive group was 53 degrees scoliosis without significant kyphosis and 51 degrees scoliosis and 68 degrees kyphosis for the dysplastic curves.

CONCLUSIONS:
In children with chondrodysplasia punctata and dysplastic kyphoscoliosis, both the kyphosis and scoliosis are rapidly progressive unlike in those with the more rare, slowly progressive type. All of their vertebral bodies are potentially dysplastic, hemiepiphyseodesis is ineffective, pseudarthrosis is common, and surgery should consist of circumferential fusion before the deformity becomes severe. The patients must be observed long-term for further vertebral dysplasia and progressive kyphoscoliosis. In contrast, the slowly progressive curves respond well to standard techniques.