It is a rare autosomal dominant disorder of endochondral ossification of long bones. Clinical diagnosis is based on presence of bowed legs and short stature during infancy and early childhood. Waddling gait is often the presenting sign in second year of life. There is marked widening of the joints with expansion of the long bones of forearms and legs. The biochemical parameters serum calcium, serum phosphorus, alkaline phosphatase and 24 hrs urinary excretion of calcium and phosphate are normal.
