PMC3182029_01
A boy manifesting coarse facies, sloping forehead with V shaped frontal hair, thick eye-brows, prominent maxilla, prognathism and large/protruding ears, short neck, and barrel-shaped thorax. The upper limbs (rhizomelic) showed bilateral contractures of the elbows and the lower limbs showed extensive genu varum.
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F1
The phenotypic features were characteristic for DMC syndrome (Figure 1 (Fig. 1)).
Anteroposterior pelvis radiograph showed a dysplastic pelvis. The iliac crest showed a pathognomonic, semi lunar, irregular lacy margin with a wide irregular sacro-iliac joint. Note the  supero-lateral collapse of the femoral heads bilaterally causing lateral displacement of the femoral heads (associated with epi-metaphyseal irregularities).  Defective ossification of the acetabuli was evident.
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F2
Skeletal survey and imagings were specific for this dysplasia, especially on pelvis radiographs - lacy appearance of the iliac crests were evident (Figure 2 (Fig. 2), Figure 3 (Fig. 3), Figure 4 (Fig. 4)).
Lateral spine radiograph showed platyspondyly, double vertebral hump (beaked/wedged) vertebrae associated with irregular end-plates.
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F3
Skeletal survey and imagings were specific for this dysplasia, especially on pelvis radiographs - lacy appearance of the iliac crests were evident (Figure 2 (Fig. 2), Figure 3 (Fig. 3), Figure 4 (Fig. 4)).
MRI image showed defective ossification of the femoral heads confirmed the superolateral femoral head collapse (a feature of progressive dysplasia and severe joint degeneration) associated with femoral head osteonecrosis (note the medial beaking of the femoral heads). The latter is the reason of femoral head collapse.
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F4
Skeletal survey and imagings were specific for this dysplasia, especially on pelvis radiographs - lacy appearance of the iliac crests were evident (Figure 2 (Fig. 2), Figure 3 (Fig. 3), Figure 4 (Fig. 4)).
3D reconstruction CT scan showed normal atlanto-dens distance with no odontoid hypoplasia. Note the calvarial thickening of the occipital region.
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F5
Note the calvarial thickening of the occipital region (Figure 5 (Fig. 5)). 