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Osteogenesis Imperfecta Associated with Cutaneous Pigmentation and Other Congenital Malformations

AMA Am J Dis Child. 1958;96(3):344-347. doi:10.1001/archpedi.1958.02060060346010.
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In 1922, Weil1 referred to the case of a 9-year-old girl whose menarche had commenced at the age of 18 months. The patient had blue sclerae and irregular cutaneous pigmentation and had suffered seven fractures, and, though the article did not reproduce radiological or biopsy reports, it indicated that "the diaphysis is thin, the rest of the bone is not gracile, and it is assumed to be an atypical form of osteopsathyrosis."

These references indicate that this could have been a case of osteogenesis imperfecta with early puberty, cutaneous pigmentation, and blue sclerae, in spite of which it is cited in the important reports by Albright and associates,2 Robson and Todd,3 Dockerty and associates,4 and Stein and associates,5 among others, as a case of poliostotic fibrous dysplasia.

We have had the opportunity of studying the case of a child whose characteristics bear some resemblance to


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