The Journal of Bone and Joint Surgery, Vol 64, Issue 6 912-929, Copyright © 1982 by Journal of Bone and Joint Surgery, Inc
Osteopetrosis. A morphological study of twenty-one cases
JW Milgram and M Jasty
Twenty-one patients, two months to seventy-eight years old, with clinically
diagnosed osteopetrosis showed radiographic and histological variations in
the formation of radiodense skeletal tissue at all ages. Pathologically the
abnormal tissue was composed of both lamellar bone and calcified cartilage.
We deduced that the abnormality or abnormalities of osteoclast function
that cause the observed changes vary in severity from time to time in
individual patients. Periods of remission in the less severely affected
patients apparently had permitted the formation of bone-marrow spaces and
allowed hematopoietic tissue to form in these patients. The patients who
died of the disease did so because of anemia or its resulting
complications. Some children with a lethal form of the disease had rickets
and epiphyseal fractures in addition to the osteopetrosis. Focal areas of
osteomalacia were observed in two specimens from adults. Traumatic and
stress fractures were frequent complications at all ages.