Which physical feature is most commonly associated with osteogenesis imperfecta?

Blue sclera is the most commonly associated physical feature with osteogenesis imperfecta. This condition, also known as brittle bone disease, is primarily caused by defects in collagen production, which affects the strength and integrity of bones. The blue sclera occurs due to the translucency of the collagen in the sclera (the white part of the eye), allowing the underlying uvea (the vascular layer of the eye) to show through. This characteristic is notable and can be a visible indicator of the disorder.

Short stature, joint hypermobility, and enlarged head circumference can be seen in individuals with osteogenesis imperfecta, but they are not as definitive or characteristic as blue sclera. In some cases, individuals with osteogenesis imperfecta may have normal stature, and while joint hypermobility is present, it is not universally observed. Enlarged head circumference may occur in certain patients, but it is not a prominent or diagnostic feature of the condition. The presence of blue sclera has a stronger correlation with osteogenesis imperfecta and serves as a recognizable hallmark of the disease.