title: [Fractures associated with dimonshed bone density, thypercalciuria and osteolysis. Is the diagnosis an osteoporosis or a syndrome?].
abstract: At first osteomalacia was presumed clinically and radiologically in a 49-year old female patient. Radiologically there were multiple suspected neoplastic osseous infiltrations, which was not confirmed by subsequent investigations. There were no indications of osteomalacia or malabsorption in the laboratory exams. The multiple microfractures and osteolysis of the fingers, the toes, the wrist and the tarsus detected with varius imaging techniques were ascribed to an acroosteolysis. Osteoporosis of both femoral necks was also present in dual photon X-ray absorptiometry densitometry. Cheney Syndrom (HCS) was diagnosed clinically and radiologically and a treatment with bisphosphonates was introduced.
authors.affiliation: Rheumaklinik, Kantonsspital Aarau.
authors.forename: A
authors.initials: A
authors.lastname: Neuwirth
authors.forename: A
authors.initials: A
authors.lastname: Geeser
authors.forename: P
authors.initials: P
authors.lastname: Hasler
mesh_terms: D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D031845:Hajdu-Cheney Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007718:Knee Injuries / Q000175:diagnosis*; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000175:diagnosis*; D058866:Osteoporotic Fractures / Q000175:diagnosis*; D010641:Phenotype; D011877:Radionuclide Imaging; D051883:Receptor, Notch2 / Q000235:genetics; D013978:Tibial Fractures / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed
chemical_list: C497764:NOTCH2 protein, human; D051883:Receptor, Notch2