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Hypophosphatasia is a rare inherited disease derived from mutations in tissue non-specific alkaline phosphatase genes, with typical oral symptoms including short root anomaly and dysplasia of dentin or cementum.

Two young female patients presented with short root anomaly with a history of premature loss of deciduous and/or permanent teeth. The laboratory and imaging investigations were performed. One case was diagnosed as odontohypophosphatasia concurrent with hyperthyroidism, the other was odontohypophosphatasia concurrent with multiple radicular cysts.

This report presents two cases of odontohypophosphatasia, a rare disease which is difficult to be diagnosed, and highlights that the history of premature loss of deciduous and/or permanent teeth, oral …