Background: 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.
Case Presentation: 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.
Conclusion: 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 manifestation and laboratory tests are crucial for clinical diagnosis.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988024 | PMC |
| http://dx.doi.org/10.1186/s12903-016-0266-0 | DOI Listing |
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