Low-energy trauma-induced intercondylar femoral fracture
Case report, 151 - 153
doi: 10.11138/ccmbm/2016.13.2.151Tag this article
We present a 44-year-old female patient with recurrent fragility fractures including an intercondylar femoral fracture and with normal planar bone densitometry. Diagnosis of hypophosphatasia was suggested by low volumetric cortical bone mineral density and laboratory findings. DNA sequencing revealed heterozygous mutations in the exons 5, 6 and 9 of the ALPL gene, thus confirming the suspected diagnosis.
KEY WORDS: hypophosphatasia; fragility fracture; DXA; intercondylar; pQCT.