Open AccessLow-energy trauma-induced intercondylar femoral fracture
Author(s) -
Mathias Aeby,
Thomas Wyss,
Birgit Mentrup,
Erdmute Kunstmann,
Franz Jakob,
Daniel Aeberli
Publication year - 2016
Publication title -
clinical cases in mineral and bone metabolism
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.314
H-Index - 32
eISSN - 1971-3266
pISSN - 1724-8914
DOI - 10.11138/ccmbm/2016.13.2.151
Subject(s) - densitometry , hypophosphatasia , bone mineral , medicine , exon , femur , fracture (geology) , femoral fracture , osteoporosis , orthodontics , nuclear medicine , radiology , surgery , gene , chemistry , biology , genetics , alkaline phosphatase , paleontology , biochemistry , enzyme
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.