Article
Clinical Manifestations and Medical Imaging of Osteogenesis Imperfecta: Fetal Through Adulthood.
Acta medica academica - 1 Aug 2021
Weaver Jennifer S, Revels Jonathan W, Elifritz Jamie M, Whitlow Benjamin, Retrouvey Michele, Wang Sherry S
Abstract excerpt
The aim of this paper is to describe the varying clinical and imaging manifestations of Osteogenesis Imperfecta (OI) in the fetus, the child, and the adult. OI is a genetic disorder with mutation of Type 1 and non-type 1 collagen genes that results in disruption of multiple collagen based organ systems, most notably bones, often leading to "brittle bones". Additional features such as blue sclera, dentinogenesis...
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