—Windholz20 reported a case of generalized osteosclerosis fragilitas, marble-bone disease, in a 11 month old child. The bones were particularly rich in calcium, and no marrow cavity was demonstrable. All of the bones were equally involved. Banded transverse shadows were present in the metaphyseal regions. No fractures were demonstrable. There was periosteal new bone formation. A bilateral optic atrophy was present. There was a family history of inbreeding. The author mentioned that in the other cases of marblebone disease reported in the literature consanguinity was a frequent finding. Fractures were common, presumably because of the decrease in the relative proportion of connective tissue in the bone, hence the name fragilitas. Atrophy of the optic nerve usually occurred due to the narrowing of the foramen of the orbit. Periosteal changes comparable in appearance were observed in some leukemias and ergosterol poisoning. Alterations in the blood picture were
KUHNS JG, CAVE EF, ROBERTS SM, et al. FORTY-EIGHTH REPORT OF PROGRESS IN ORTHOPEDIC SURGERY. Arch Surg. 1932;25(4):811–818. doi:10.1001/archsurg.1932.01160220199008
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