Objective: Erlenmeyer flask deformity is a common radiological finding in patients with Gaucher's disease; however, no definition of this deformity exists and the reported prevalence of the deformity varies widely. To devise an easily applied definition of this deformity, we investigated a cohort of knee radiographs in which there was consensus between three experienced radiologists as to the presence or absence of Erlenmeyer flask morphology. Methods: Using the presence or absence of Erlenmeyer flask morphology as a benchmark, we measured the diameter of the femur at the level of the physeal scar and serially at defined intervals along the metadiaphysis. Results: A measured ratio in excess of 0.57 between the diameter of the femoral shaft 4 cm from the physis to the diameter of the physeal baseline itself on a frontal radiograph of the knee predicted the Erlenmeyer flask deformity with 95.6% sensitivity and 100% specificity in our series of 43 independently diagnosed adults with Gaucher's disease. Application of this method to the distal femur detected the Erlenmeyer flask deformity reproducibly and was simple to carry out. Conclusion: Unlike diagnostic assignments based on subjective review, our simple procedure for identifying the modelling deformity is based on robust quantitative measurement: it should facilitate comparative studies between different groups of patients, and may allow more rigorous exploration of the pathogenesis of the complex osseous manifestations of Gaucher's disease to be undertaken.
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