What condition is suggested by a midshaft fracture and blue-grey sclera in a 6-month-old?

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The presence of a midshaft fracture and blue-grey sclera in a 6-month-old infant strongly suggests Osteogenesis Imperfecta (OI), commonly known as “brittle bone disease.” This condition is caused by a genetic mutation that affects collagen production, which is crucial for bone strength. As a result, infants with OI often experience spontaneous fractures or fractures with minimal trauma, particularly in specific locations like the midshaft of long bones.

The characteristic blue-grey sclera is a notable clinical feature associated with Osteogenesis Imperfecta. It results from the translucence of the thin scleral tissue, revealing the underlying choroidal pigment. This sign, combined with the infant's age and the occurrence of a fracture, aligns closely with the diagnosis of OI rather than other conditions.

In contrast, other conditions listed, such as osteomyelitis or physical maltreatment, do not typically present with the combination of blue-grey sclera. Osteomyelitis generally presents with signs of infection, including fever and local tenderness, and is less likely to be indicated solely by a fracture and scleral color. Similarly, while physical maltreatment can lead to fractures, it does not correlate with the distinctively blue-grey sclera, making it less likely

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