Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
American journal of medical genetics. Part A - 1 Feb 2014
Vandersteen Anthony M, Lund Allan M, Ferguson David J P, Sawle Philip, Pollitt Rebecca C, Holder Susan E, Wakeling Emma, Moat Neil, Pope F Michael
Abstract excerpt
Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular hear...
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