Osteogenesis imperfecta
PH Byers, WG Cole - Connective tissue and its heritable …, 2002 - Wiley Online Library
PH Byers, WG Cole
Connective tissue and its heritable disorders: molecular, genetic …, 2002•Wiley Online LibraryThe major clinical feature that defines osteogenesis imperfecta (OI) is bone fragility. We
begin the chapter with a discussion of the history, prevalence, and classification of OI. After a
detailed discussion of the four major types (I‐IV), we consider the mechanisms of mutation in
collagen genes that result in OI. Next, we discuss the prenatal diagnosis and the differential
diagnosis of other causes of OI. Finally, we discuss OI and child abuse, and the value of
animal models of human genetic disorders.
begin the chapter with a discussion of the history, prevalence, and classification of OI. After a
detailed discussion of the four major types (I‐IV), we consider the mechanisms of mutation in
collagen genes that result in OI. Next, we discuss the prenatal diagnosis and the differential
diagnosis of other causes of OI. Finally, we discuss OI and child abuse, and the value of
animal models of human genetic disorders.
Summary
The major clinical feature that defines osteogenesis imperfecta (OI) is bone fragility. We begin the chapter with a discussion of the history, prevalence, and classification of OI. After a detailed discussion of the four major types (I‐IV), we consider the mechanisms of mutation in collagen genes that result in OI. Next, we discuss the prenatal diagnosis and the differential diagnosis of other causes of OI. Finally, we discuss OI and child abuse, and the value of animal models of human genetic disorders.
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