In 1904 Albers-Schönberg1 described a disease of the skeletal system which he called Marmorknochenkrankheit. In the thirty-two years which have elapsed since this contribution was made less than eighty additional cases have appeared in the literature, under such diverse names as osteopetrosis,2 Albers-Schönberg's disease,3 osteosclerosis fragilis generalisata,4 marble bones,5 chalky bones,6 osteosclerotic anemia,7maladie des os marmoréens8 and congenital osteosclerosis.9
The characteristic evidence of this disease is the roentgen demonstration of the overgrowth of the cortical portion of the bone at the expense of the medullary cavity. This condition is usually most noticeable in the central portions of the pelvic bones, the bodies of the vertebrae, the bones at the base of the skull, the upper end of the femur and the lower end of the tibia and the fibula.10 Certain secondary manifestations usually, although not invariably, accompany the disease
WORTIS H. OSTEOPETROSIS ("MARBLE BONES"). Am J Dis Child. 1936;52(5):1148–1157. doi:10.1001/archpedi.1936.04140050104010
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