Which inherited condition is associated with fragile bones resulting from incomplete bone formation?

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The condition associated with fragile bones resulting from incomplete bone formation is osteogenesis imperfecta. This genetic disorder is primarily caused by mutations in the genes responsible for producing collagen, a critical protein that provides strength and structure to bones. As a result, individuals with osteogenesis imperfecta have bones that are more fragile and susceptible to fractures, often leading to repeated breaks with minimal trauma.

The clinical manifestations of osteogenesis imperfecta can range significantly, with some individuals experiencing frequent fractures, while others have only a few throughout their lives. The severity of the condition can vary, as it is classified into different types based on the clinical features and the genetic mutations involved. Apart from fragile bones, symptoms may include blue sclera, dental imperfections, and possible hearing loss.

In contrast, cleidocranial dysplasia is characterized by defective development of the clavicles and skull, hypophosphatasia involves low levels of an enzyme affecting the bones and teeth, and Paget's disease primarily affects the remodeling process of bones, leading to enlargement and deformity but not directly resulting in fragile bones due to incomplete formation.

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