Spondyloenchondrodysplasia: several phenotypes – the same syndrome
- Cite this article as:
- Uhlmann, D., Rupprecht, E., Keller, E. et al. Pediatric Radiology (1998) 28: 617. doi:10.1007/s002470050431
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.