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Article
January 1953

OSTEOGENESIS IMPERFECTA CONGENITA AND BLUE SCLEROTICSA Clinicopathologic Study

Author Affiliations

BALTIMORE
From the Wilmer Ophthalmological Institute, Johns Hopkins Medical Center.

AMA Arch Ophthalmol. 1953;49(1):6-16. doi:10.1001/archopht.1953.00920020009002
Abstract

OSTEOGENESIS imperfecta congenita (Vrolik) is usually a hereditary disease. It is characterized by fragility of bones, so-called blue sclerae, otosclerosis and deafness, relaxation of ligaments and skeletal muscles, dental defects, and other deficiencies related to mesodermal tissues. It is known variously by such names as Lobstein's syndrome, osteopsathyrosis idiopathica, and van der Hoeve's disease.

HISTORICAL REVIEW  Ekmann, in 1788, carefully described the disease in three generations of patients. He did not mention blue sclerae and deafness. Subsequent to this report cases of multiple fractures were described by Lobstein, Vrolik, and others. Thin sclerae were described by Henzschel,1 in 1831, in a female with aniridia. Gescheidt,2 in 1832, described blue sclerae in a case of microphthalmos. Neither author noted a familial tendency or other associated characteristics of the disease. In 1841 von Ammon,3 without the aid of magnification, noted the thinness of the sclera in dissected eyes and

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