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. 2018 Sep 12;19(1):81–92. doi: 10.1007/s11154-018-9460-5

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© The Author(s) 2018

Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Fig. 1 — Examples of typical skeletal abnormalities in patients with inborn errors of metabolism. a. Erlenmeyer flask deformity in the distal femur of a patient with type 1 Gaucher disease (plain radiograph). b. Fragility fractures (arrows) in the femoral neck and diaphysis of a patient with X-linked hypophosphatemic rachitis (T2-MRI). c. Myelopathy (arrow) due to narrowing of the spinal canal in MPS-I. Note the platyspondylia (flattened vertebral bodies) as part of the dysostosis multiplex (T2-MRI). d. Avascular necrosis on the right side, normal femoral head on the left in a patient with Gaucher disease (plain radiograph)