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.
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).