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Clin Cases Miner Bone Metab. 2016 May-Aug;13(2):151-153. Epub 2016 Oct 5.

Low-energy trauma-induced intercondylar femoral fracture.

Author information

1
Department of Rheumatology, Immunology and Allergology, Inselspital Bern, Bern, Switzerland.
2
Orthopedic Clinic Sonnenhof Bern, Bern, Switzerland.
3
Orthopedic Center for Musculoskeletal Research Experimental and Clinical Osteology, Orthopedic Department University of Würzburg, Würzburg, Germany.
4
Department of Human Genetics, University of Würzburg, Würzburg, Germany.

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:

DXA; fragility fracture; hypophosphatasia; intercondylar; pQCT

Conflict of interest statement

Conflict of interests Franz Jakob has received honoraria from Alexion for lectures and advice. Mathias Aeby, Tobias Wyss, Birgit Mentrup, Erdmute Kunstmann, and Daniel Aeberli declare that they have no conflict of interest.

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