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1.
Praxis (Bern 1994) ; 101(6): 413-7, 2012 Mar 14.
Artículo en Alemán | MEDLINE | ID: mdl-22419140

RESUMEN

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.


Asunto(s)
Síndrome de Hajdu-Cheney/diagnóstico , Traumatismos de la Rodilla/diagnóstico , Osteoporosis Posmenopáusica/diagnóstico , Fracturas Osteoporóticas/diagnóstico , Fracturas de la Tibia/diagnóstico , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Síndrome de Hajdu-Cheney/genética , Humanos , Persona de Mediana Edad , Fenotipo , Cintigrafía , Receptor Notch2/genética , Tomografía Computarizada por Rayos X
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