title: Low-energy trauma-induced intercondylar femoral fracture.
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.
authors.affiliation: Department of Rheumatology, Immunology and Allergology, Inselspital Bern, Bern, Switzerland.
authors.forename: Mathias
authors.initials: M
authors.lastname: Aeby
authors.affiliation: Orthopedic Clinic Sonnenhof Bern, Bern, Switzerland.
authors.forename: Tobias
authors.initials: T
authors.lastname: Wyss
authors.affiliation: Orthopedic Center for Musculoskeletal Research Experimental and Clinical Osteology, Orthopedic Department University of Würzburg, Würzburg, Germany.
authors.forename: Birgit
authors.initials: B
authors.lastname: Mentrup
authors.affiliation: Department of Human Genetics, University of Würzburg, Würzburg, Germany.
authors.forename: Erdmute
authors.initials: E
authors.lastname: Kunstmann
authors.affiliation: Orthopedic Center for Musculoskeletal Research Experimental and Clinical Osteology, Orthopedic Department University of Würzburg, Würzburg, Germany.
authors.forename: Franz
authors.initials: F
authors.lastname: Jakob
authors.affiliation: Department of Rheumatology, Immunology and Allergology, Inselspital Bern, Bern, Switzerland.
authors.forename: Daniel
authors.initials: D
authors.lastname: Aeberli
keywords: DXA; fragility fracture; hypophosphatasia; intercondylar; pQCT