Pseudohypophosphatasia

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Abstract
WE report herewith a condition, presumably hereditary, that resembles classic hypophosphatasia.1 The new trait is characterized by an osteopathy of skull and long bones resembling that of typical hypophosphatasia, muscular hypotonia, hypercalcemia and phosphoethanolaminuria. One important feature distinguishes the new trait from the old, and that is the consistently normal total alkaline phosphatase activity in plasma; because of this, we have called it "pseudohypophosphatasia."2 Clinical FeaturesL.W., a 3-month-old girl, born on April 20, 1964, attracted attention because of her irritable temperament, widened skull sutures, bulging anterior fontanelle and hypotonia. Investigation showed her to be below the 3d percentile for . . .