Figure 1.
Hypophosphatasia (HPP) diagnostic pathway. This pathway focuses on presentation and diagnosis of infants and children with HPP. *Radiological findings can include profound hypomineralisation, irregularity of the provisional zone of calcification, physeal widening, metaphyseal flaring/fraying, metaphyseal radiolucencies and fractures.1 3 ALP, alkaline phosphatase; PEA, phosphoethanolamine; PLP, pyridoxal 5′-phosphate; PPi, inorganic pyrophosphate.