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Article
November 1934

OSTEOPETROSIS (MARBLE BONES) IN AN INFANT: REVIEW OF THE LITERATURE AND REPORT OF A CASE

Author Affiliations

NEW YORK
From the Babies' Hospital and the Department of Diseases of Children, College of Physicians and Surgeons, Columbia University.

Am J Dis Child. 1934;48(5):949-1000. doi:10.1001/archpedi.1934.01960180003001
Abstract

Osteopetrosis (marble bones, Marmorknochenkrankheit, Albers-Schönberg's disease, osteosclerosis fragilis generalisata, maladie des os marmoréens) is a disease characterized essentially by increased thickness and density of the cortical and spongy portions of the entire osseous system. The marrow cavity may be encroached on to the point of obliteration, and there are frequent but less constant alterations in the external configuration of certain parts of the skeleton. Roentgenographically the individual bones appear opaque, heavy and lacking in finer structure. These changes are characteristically, although not invariably, associated with a myelophthisic type of anemia, the origin of which is closely bound up with the etiology of the osseous sclerosis. There may be other manifestations, such as multiple pathologic fractures, chronic osteomyelitis, hydrocephalus, optic atrophy and enlargement of the liver, the spleen and the lymph nodes throughout the body. The disease shows a striking familial tendency and is occasionally hereditary.

Osteopetrosis is a rare disease.

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