Genetic heterogeneity in osteogenesis imperfecta.

@article{Sillence1979GeneticHI,
  title={Genetic heterogeneity in osteogenesis imperfecta.},
  author={David O. Sillence and A Senn and David M. Danks},
  journal={Journal of Medical Genetics},
  year={1979},
  volume={16},
  pages={101 - 116}
}
An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures… Expand
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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. Expand
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  • 1981
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Dividing the offspring into two groups depending on whether or not male-to-male inheritance was present and performing segregation and penetrance calculation on these data did not produce any indications that there are two genetically distinguishable subtypes of osteogenesis imperfecta type I. Expand
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It appears very interesting to report on dizygotic twins with osteogenesis imperfecta congenita; to the authors' knowledge, the first to be mentioned in the literature. Expand
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Osteogenesis imperfecta is a rare condition characterized by fragility of the bones, leading to multiple fractures, but the congenital variety is often found in children of parents who have no sign of the disease. Expand
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TLDR
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TLDR
It would seem that the condition is due either to defective function of the osteoblasts or possibly lack of suffient preparatory calcification of cartilage, as shown in this isolated study. Expand
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