Overview
Why Fragile Bone Needs a Whole-Person Plan
Osteogenesis imperfecta (OI) is a group of inherited connective tissue disorders in which bone strength is reduced.
NCLEX-RN
NCLEX-RN
Osteogenesis imperfecta (OI) is a group of inherited connective-tissue disorders in which bone strength is reduced. It affects approximately 1 in 10,000 to 20,000 people. Variants in the COL1A1 and COL1A2 genes, which code for type I collagen, cause approximately 90% of cases; in those forms the inheritance is autosomal dominant, so one altered copy of the gene is enough to cause the condition. Some children have OI because of a new (sporadic) variant, so a negative family history does not exclude it. Weak collagen disrupts the framework that supports mineral in bone, which is why a person can fracture after a movement or force that would usually cause no injury. OI is not simply low calcium, and replacing calcium alone does not correct the collagen problem. Collagen is present beyond bone. Blue or grey sclerae, dentinogenesis imperfecta (fragile, discoloured teeth), joint laxity, short stature, scoliosis and hearing loss can accompany fractures. In the mildest common form (type I), about half of people develop hearing loss in adulthood. These features vary; a person need not have every classic sign, and...
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