What condition is characterized by blue sclerae, hearing loss, and recurrent fractures?

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The condition characterized by blue sclerae, hearing loss, and recurrent fractures is osteogenesis imperfecta. This genetic disorder is primarily due to abnormalities in collagen synthesis, leading to brittle bones that fracture easily. The blue sclerae occur because the underlying choroidal veins become more visible through the thinner connective tissue of the sclera. Hearing loss is a common complication, resulting from changes in the structure of the ear bones or due to dysfunction in the middle or inner ear. Osteogenesis imperfecta encompasses several types, each varying in severity, but the classic triad of symptoms typically includes the features mentioned: blue sclerae, hearing loss, and recurrent fractures.

In contrast, Marfan syndrome primarily affects connective tissue leading to skeletal abnormalities and cardiovascular problems but does not specifically include blue sclerae or frequent fractures. Achondroplasia is a form of skeletal dysplasia characterized by disproportionate short stature, not by the features presented in the question. Ehlers-Danlos syndrome is also related to connective tissue but presents with hypermobility, skin elasticity, and easy bruising, rather than the classic signs of osteogenesis imperfecta.

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