Which condition is specifically characterized by skeletal fragility and blue sclera?

Which condition is specifically characterized by skeletal fragility and blue sclera?

• A. Osteogenesis imperfecta
• B. Osteoporosis
• C. Paget's disease
• D. Rickets

Answer: (A)

The condition characterized by skeletal fragility and blue sclera is osteogenesis imperfecta. This genetic disorder primarily affects collagen production, which is crucial for the strength and structure of bones. As a result, individuals with osteogenesis imperfecta have bones that are prone to fractures with minimal trauma. The blue sclera occurs due to the thinness of the connective tissue in the eye, which allows the underlying choroidal veins to show through, giving the sclera a bluish tint. This specific manifestation is a hallmark of osteogenesis imperfecta and helps differentiate it from other conditions that may cause bone fragility. In contrast, osteoporosis, while also associated with increased fracture risk, does not commonly present with blue sclera. Paget's disease generally affects the normal turnover of bone tissue and leads to abnormal bone growth but does not result in blue sclera and presents differently. Rickets is a condition related to vitamin D deficiency leading to softened bones in children; it does not manifest with blue sclera either. Hence, osteogenesis imperfecta stands out for its specific combination of skeletal fragility and blue sclera.

The condition characterized by skeletal fragility and blue sclera is osteogenesis imperfecta. This genetic disorder primarily affects collagen production, which is crucial for the strength and structure of bones. As a result, individuals with osteogenesis imperfecta have bones that are prone to fractures with minimal trauma.

The blue sclera occurs due to the thinness of the connective tissue in the eye, which allows the underlying choroidal veins to show through, giving the sclera a bluish tint. This specific manifestation is a hallmark of osteogenesis imperfecta and helps differentiate it from other conditions that may cause bone fragility.

In contrast, osteoporosis, while also associated with increased fracture risk, does not commonly present with blue sclera. Paget's disease generally affects the normal turnover of bone tissue and leads to abnormal bone growth but does not result in blue sclera and presents differently. Rickets is a condition related to vitamin D deficiency leading to softened bones in children; it does not manifest with blue sclera either. Hence, osteogenesis imperfecta stands out for its specific combination of skeletal fragility and blue sclera.