Chondrodysplasia Punctata: Clinical and Imaging Impact on Spine

Study Design This study is a retrospective study. Objective This study aims to identify spinal deformities caused by chondrodysplasia punctata (CDP) in spine and assess our surgical treatment experience. Introduction CDP is a skeletal dysplasia characterized by stippled epiphyses. It has a wide spectrum of clinical manifestations. The classic vertebral involvement is dysplastic kyphoscoliosis and cervical instability which leads to extremely difficult surgical technique, associated with a high rate of complications, basically based on its great potential for progression and its early onset. Patients and Methods We evaluated six patients operated because of CDP (two, of those, had surgery in another health care institution) and all clinical and imaging results were assessed. Physical examinations, clinical charts, X-rays, MRIs, and CT scans were recorded, as well as demographics and spine deformity patterns. Results In total, five were females and one was male. The mean age at first clinical examination was 4 years and 7 months. Patient's mean follow-up within our hospital was 4 years and the other two patients, 5 years and 8 months. Dysplastic kyphoscoliosis was the most common deformity pattern founded (two patients needing additional surgeries), and one cervical instability. Surgical treatment consisted in instrumented fusion by posterior approach, considering growing rods technique when needed. Conclusion CDP produces large kyphoscoliosis angular values and usually has an early onset. We encourage definitive fusion to prevent neurological complications. CDP deformity surgical treatment is tied to poor results.