PMC4891295_01
Conventional radiographs as part of skeletal survey in P1 (top panel) and P2 (bottom panel):. On x-rays of the right hand, there is visible widening of the epiphyses of the ulna and radius in both siblings with cupping of the ulna and dense thickening of the radioulnar ligament without the presence of a Madelung deformity. The lateral spine film shows flattening of the vertebral bodies (platyspondyly).
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F1
Subsequent to our exome analysis, we performed skeletal surveys on both siblings, which revealed characteristic findings of spondyloenchondrodysplasia with flattening of the vertebral bodies (platyspondyly), widening of the epiphyses of the upper and lower distal extremities (fibula/tibia/ulna/radius), cupping of the ulna and dense thickening of the radioulnar ligament without the presence of a Madelung deformity (Figure 1).