Genetic disorders with heterotopic ossificans.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 26015640.
- Also identified by DOI 10.4103/0019-5413.156228 and PMC identifier 4443422.
- Licence recorded as CC BY-NC-SA.
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Abstract
Fibrodysplasia ossificans progressiva (FOP) and progressive ossific heteroplasia (POH) are rare genetic disorders characterized by heterotopic bone formation leading to progressive loss of mobility and function. We report three cases of these rare disorders (two cases of FOP and one case of POH), which were clinically diagnosed and underwent genetic analysis. The aim of this report is to highlight the clinical features and the differences between these two conditions. We would also like to emphasize on the morbidity that can arise from unnecessary invasive investigations for diagnostic purposes.