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. McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
References in periodicals archive
HPP has diverse phenotypes and is classified into seven subtypes based on the age of onset and clinical features: perinatal, benign prenatal, infantile, childhood and adult type, odontohypophosphatasia, and
pseudohypophosphatasia (2).
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