Fracture patterns in malignant osteopetrosis (Albers-Schönberg disease)

We report the occurrence and distribution of 17 fractures in four patients with malignant, autosomal recessive osteopetrosis. The frequency of the disease in the Caucasian population is in the order of 1 per 20,000, of which the vast majority suffer from a mild autosomal dominant form. The patients have been followed up for 17-22 years and have multiple handicaps. Their case histories indicate that the lower extremity is the most common site for pathological fractures. The traumata were all caused by common accidents, usually falls. Conservative treatment was successful, with normal healing time in the four cases presented.