Diagnostic Case

Diagnosis delayed for >1 year in a male child with hypophosphatasia1

A young child’s diagnosis is delayed because of failure to recognise clinical symptoms of hypophosphatasia and use of inappropriate reference intervals.

The use of an appropriate age- and gender-adjusted alkaline phosphatase reference interval could have prevented the delayed diagnosis of hypophosphatasia.

Based on a published case study: Madson et al, Bull Group Int Rech Sci Stomatol Odontol, 2012.

  1. Madson KL, Mack KE, Zika S, Whyte MP. Hypophosphatasia: a series of diagnostic missteps. Bull Group Int Rech Sci Stomatol Odontol. 2012;51(1):e16.

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