PMC3614015_01
The child's phenotype showed sparse skull hair, depressed nasal bridge, full cheeks, large nose, microdontia, and large ears. Ligamentous hyperlaxity, rhizomelia, barrel shaped chest, dysplastic nipples, umbilical hernia, and windswept lower limb deformity.
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F1
Ligamentous hyperlaxity, rhizomelia, barrel shaped chest, dysplastic nipples, umbilical hernia, and winswept lower limb deformity (genu valgum of 30o on the right side, genu varum of 10o on the left side) were evident (Figure 1 (Fig. 1)).
Reformatted coronal Spine CT scan showed thoracic scoliosis with significant vertebral disorganization associated with false image of butter-fly like vertebrae of the T8 and L1 and wedging of L2 because of irregular and defective ossification of the vertebral bodies which resembles segmentation defects overwhelmed by extensive enchondromatous lesions along the entire spine and the lacy - like appearance of the iliac crests respectively.
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F2
A skeletal survey at the age of 7 years, reformatted coronal spine CT scan showed thoracic scoliosis with significant vertebral disorganization associated with false image of butter-fly like vertebrae of the T8 and L1 and wedging of L2 because of irregular and defective ossification of the vertebral bodies which resembles segmentation defects overwhelmed by extensive enchondromatous lesions along the entire spine and the lacy-like appearance of the iliac crests (Figure 2 (Fig. 2)).
Reformatted coronal spinal CT scan showed significant platyspondyly and anisospondyly (irregularly shaped vertebral bodies) in which a unique vertebral disorganization malformation complex is notable. Specific feature - chondromatose nodes in vertebral bodies (bony "defects" in anterior aspects, mostly - at thoracic level).
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F3
Specific feature - chondromatose nodes in vertebral bodies (bony "defects" in anterior aspects, mostly - at thoracic level) (Figure 3 (Fig. 3)).
AP standing radiograph showed hypoplastic iliac bones associated with severe epiphyseal dysplasia and enchondroma-like metaphyseal changes with significant metaphyseal expansion and radiolucency of the inferior femora. Note the windswept lower limb deformity (abnormal valgus deformity in one knee in association with varus in the other).
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F4
Note the windswept lower limb deformity (abnormal valgus deformity in one knee in association with varus in the other) (Figure 4 (Fig. 4)).
Contrast arthrography of the hips demonstrates spherical shape of the femoral heads with severe delayed ossification. Congruency of the hip joints is normal, cartilaginous acetabular coverage is sufficient. Short femoral necks (more severe on the left side with secondary decreased neck-shaft angle) are notable.
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F5
Short femoral necks (more severe on the left side with secondary decreased neck-shaft angle) are notable (Figure 5 (Fig. 5)).
Intraoperative radiographs of the knees. Plates for hemiepiphysiodesis applied to medial sides of the physes of right distal femur and right proximal tibia for correction of genu valgum and lateral aspect of left proximal tibia for correction of genu varum.
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F6