Rare Diseases Symptoms Automatic Extraction

Screening for spinal stenosis in achondroplastic patients undergoing limb lengthening.


The need for a screening programme for spinal stenosis in children with achondroplasia undergoing limb lengthening was identified in a tertiary limb reconstruction service. The aim of this study was to evaluate whether screening would identify the 'at risk' group. A total of 26 achondroplastic patients underwent our screening programme. Canal diameters were measured by MRI. Neurosurgical interventions were recorded. Of the patients, 13 had severe foramen magnum narrowing. Six patients required single or multiple surgical decompressions. We identified female sex, delayed milestones and a tight cervicomedullary junction as high risks. We stress upon the importance of developing a nationalized screening programme with guidelines to identify a high-risk group.