Jay R. Shapiro

All articles by Jay R. Shapiro

Osteogenesis Imperfecta

Are You Confident of the Diagnosis? Osteogenesis imperfecta (OI), a heritable disorder of connective tissue, is characterized by brittle bones, blue sclera, dentinogenesis imperfecta, adult onset deafness and short stature. There is marked clinical and genetic heterogeneity which includes dominant or recessive inheritance and mild, severe or lethal phenotypes. To-date, eight phenotypes have been accepted…

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