What inherited condition is associated with recurrent bone fractures and blue sclerae in a mother and her 3-year-old son?

Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. This condition is due to a defect in the production of collagen, an essential protein in bone and connective tissue, which leads to the bones being more susceptible to fractures.

In the scenario described, both the mother and her 3-year-old son present with symptoms indicative of OI - recurrent bone fractures and blue sclerae. The blue sclera is particularly notable; it arises from the reduced amount of collagen in the body, which allows the underlying dark uveal tissue of the eye to show through the thin, translucent scleral tissue. These features are classic hallmarks of osteogenesis imperfecta, making it the most appropriate answer.

By contrast, Marfan syndrome primarily affects connective tissues and is characterized by features such as tall stature, long limbs, and cardiovascular issues rather than bone fragility. Phenylketonuria is a metabolic disorder resulting from an inability to metabolize phenylalanine, leading to cognitive impairment if untreated, but it does not typically cause bone fractures or blue sclera. Fragile X syndrome is a genetic condition associated with intellectual disability and behavioral issues rather than the skeletal manifestations. Thus