No anemia or metabolic abnormality was noted on routine lab investigations. Mental retardation and family history have also been documented in subsequent reported cases. No specific lab abnormalities have been demonstrated. The trabecular pattern of the medullary cavity of the midshaft is distorted, and typically, posterior cortical thickening is seen. Horizontalization of the sacrum, squaring of the ilia, and a low position of L5 relative to the iliac bone are associated deformities.
Differential diagnosis includes healed rickets and osseous syphilis.
Severe bowing may be seen in osteogenesis imperfecta, but again, multiple fractures and osteoporosis are present with this disease and allows for easy differentiation. Toxopachyosteose Diaphysaire Tibio-Peroniere.