Medical Dictionary » H » Hypophosphatasia

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Hypophosphatasia

 
 


Hypophosphatasia

Genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to ethanolamine phosphaturia and ethanolamine phosphatemia. Clinical characteristics include severe skeletal defects resembling rickets, failure of the calvarium to calcify, dyspnea, cyanosis, and gastrointestinal symptoms, renal calcinosis, failure to thrive. Usual course - chronic; progressive.




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