| hypophosphatasaemia | A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcaemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin d-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (12 Dec 1998) |
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