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Spondyloenchondrodysplasia: several phenotypes – the same syndrome

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Abstract

We present details of a dwarfing skeletal dysplasia in two boys. Radiographs show multiple enchondromas of tubular and flat bones together with abnormalities of the spinal column. Clinical, laboratory and radiological findings enable this entity to be grouped within the spectrum of enchondromatoses with vertebral changes. A literature review suggests heterogeneity of this group of conditions.

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Received: 1 August 1997 Accepted: 9 March 1998

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Uhlmann, D., Rupprecht, E., Keller, E. et al. Spondyloenchondrodysplasia: several phenotypes – the same syndrome. Pediatric Radiology 28, 617–621 (1998). https://doi.org/10.1007/s002470050431

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  • DOI: https://doi.org/10.1007/s002470050431

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