A mother brings her child to the hospital with multiple fractures and blue sclera. Which diagnosis is most likely?

The presentation of multiple fractures and blue sclera in a child is highly suggestive of Osteogenesis Imperfecta (OI). OI, often referred to as "brittle bone disease," is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. The blue sclera occurs due to the underlying defect in collagen, which affects the tissues of the body, including the eyes.

In OI, the defect is primarily in type I collagen, which is crucial for bone structure, leading to both skeletal fragility and characteristic features such as blue sclera, hearing loss, and in some cases, dental abnormalities. The presentation of multiple fractures is a hallmark of the condition, and these may occur from routine activities or even minor trauma.

While rickets involves bone demineralization and weakened bone structure due to vitamin D deficiency, it does not typically present with blue sclera. Marfan syndrome primarily affects connective tissues and presents with features like tall stature, arachnodactyly, and cardiovascular problems, but not specifically with fractures and blue sclera. Hypophosphatasia is characterized by skeletal abnormalities and can lead to fractures, but the blue sclera is not a feature of this condition.

Thus