Hypophosphatasia, manifested in the bowing and shortening of both femora and a tibia, was noted at birth in a female infant. At 4 1/2 months the infant suddenly became extremely irritable and ceased to thrive. The diagnosis was established by chemical studies which revealed extremely low levels of alkaline phosphatase in the serum and large amounts of phosphoethanolamine in the urine. A fall, though the associated trauma was otherwise minimal, resulted in a fracture of the right femur, and the prognosis is poor.
Kellsey DC. Hypophosphatasia and Congenital Bowing of the Long Bones. JAMA. 1962;179(3):187–190. doi:10.1001/jama.1962.03050030001001
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