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September 1947

OSTEOGENESIS IMPERFECTA: A Study of Five Generations

Author Affiliations


From the Department of Medicine, Toledo Hospital.

Arch Intern Med (Chic). 1947;80(3):358-365. doi:10.1001/archinte.1947.00220150068005

THE PURPOSE of this paper is to report a family in which five generations have been affected with osteogenesis imperfecta. Riesenman and Yater,1 after a study of seven families, concluded that osteogenesis imperfecta (fragilitas osseum, Lobstein's disease or Vrolik's disease) is "a hereditary and familial disease and is transmitted as a dominant mendelian factor. It is a hereditary mesenchymal hypoplasia due to a disturbance of the gene or genes that determine normal mesenchymal development."

Lobstein is generally given credit for first describing this disease, but Riesenman and Yater1 ascribed the first description to Elman in 1788. Lobstein's syndrome today is called osteogenesis imperfecta tarda in contradistinction to the syndrome described by Vrolik in 1849. The latter, at present, is referred to as the early or congenital form. Spurway2 in 1896 called attention to the fact that certain patients with fragile bones also had blue scleras. Bronson3

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