pseudohypophosphatasia

pseudohypophosphatasia

A condition characterized by clinical and radiologic features of vitamin D-resistant rickets and phosphoethanolaminuria, with ↑ pyridoxal 5'-phosphate–vitamin B6 cofactor, caput membraneceum, osteopathy of the skull and long bones, failure to thrive, muscle hypotonicity. Cf Hypophosphatasia.
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