Clin Cases Miner Bone Metab, 2016; 13(2): 151-153, PMID: 27920814
Low-energy trauma-induced intercondylar femoral fracture.
Year: 2016
Aeby M, Wyss T, Mentrup B, Kunstmann E, Jakob F, Aeberli D
Department of Rheumatology, Immunology and Allergology, Inselspital Bern, Bern, Switzerland.
Abstract
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.Keywords: hypophosphatasia; fragility fracture; DXA; intercondylar; pQCT
GID: 4344; Last update: 11.01.2017
