The X-ray findings of spondylometaphyseal dysplasia

Objective: To explore the clinical, radiological findings and pathogenic factor, of spondylometaphyseal dysplasia. Methods: Five cases were reported and the relevant documents were studied retrospectively. Plain X-ray film was performed in all patients. Results: There were 4 male and 1 female, age ranged from 4 to 15 years with average of 9 years. The main features of 5 cases included delayed bone age, stature short, short trunk, waddling gait noted, scoliosis in 2 cases, kyphoscoliosis in 1 case, severe genu valgum in 2 cases. The main X-ray appearance of 5 cases is multiple irregularities of long bones' metaphyses associated with platyspondylia, epiphysis is normal. Type I SMD in 2 cases, Type II SMD in 1 case, Type III SMD in 2 cases. Conclusion: When we meet children with delayed bone age and stature short, and multiple irregularities of long bones metaphyses associated with platyspondylia were seen in X-ray plain film, we should think about spondylometaphyseal dysplasia. (authors)