Low - energy trauma - induced intercondylar femoral fracture Case report

نویسندگان

  • Mathias Aeby
  • Tobias Wyss
  • Birgit Mentrup
  • Erdmute Kunstmann
  • Franz Jakob
  • Daniel Aeberli
چکیده

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.

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تاریخ انتشار 2016