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Scurvy
6%
195/3000
Osteogenesis imperfecta
81%
2435/3000
Fibrous dysplasia
5%
161/3000
Diastrophic dysplasia
4%
117/3000
Ochronosis (alkaptonuria)
3%
77/3000
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Osteogenesis imperfecta (OI) is caused by a defect in Type I collagen (COL1A1 and COL1A2) that causes abnormal cross-linking via a glycine substitution in the procollagen molecule. This defect leads to decreased collagen secretion, bone fragility, “wormian” bones, short stature, scoliosis, tooth defects, hearing defects, and ligamentous laxity. The article by Cole explains that OI includes a wide spectrum of disease and has various inheritance patterns (autosomal dominant or autosomal recessive). Fibrous dysplasia is caused by a germ line defect in the Gsa protein. Scurvy is caused by a vitamin C deficiency that causes a decrease in chondroitin sulfate synthesis and subsequent defect in intracellular hydroxylation of collagen peptides. Diastrophic dysplasia is caused by a mutation of a gene coding for a sulfate transport protein. Ochronosis (alkaptonuria) is caused by a defect in the homogentisic acid oxidase system.
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