Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta
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By Meena Balasubramanian, University of Sheffield
ISBN: 9781615047444 | PDF ISBN: 97816115047451
Copyright © 2017 | 64 Pages | Publication Date: January, 2017
Ordering Options: Paperback $30.00   E-book $24.00   Paperback & E-book Combo $37.50

Osteogenesis imperfecta (OI) is a disease encompassing a group of disorders mainly characterized by bone fragility and is the commonest form of heritable bone fragility. In this book, the clinical presentations with particular emphasis on rare phenotypes associated with OI are discussed together with molecular advances in diagnosis and treatment of OI. There is a broad spectrum of clinical severity in OI, ranging from multiple fractures in utero and perinatal death, to near-normal adult stature and low fracture incidence. Facial dysmorphism has been noted, but is not well described, nor is it an invariable feature.

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