hrp0084p1-16 | Bone | ESPE2015

Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

Sawyer Eileen K , Anderson Karen

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disease resulting from loss-of-function mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Understanding of the clinical presentation is largely based on single case reports, which presents challenges for the recognition and diagnosis of HPP.Objective: To better understand disease presentation, we surveyed the literature to characterize clinical features and presentat...