What is typically seen in patients with osteogenesis imperfecta?

Study for the USMLE Step 2 CK Exam. Prepare with flashcards and multiple choice questions, each question has hints and explanations. Get ready for your exam!

Osteogenesis imperfecta (OI), also known as "brittle bone disease," is a genetic disorder characterized by fragile bones that break easily, often with little or no apparent cause. One of the notable features of this condition is dentinogenesis imperfecta, which is a defect in tooth development that results in discolored, brittle teeth that can easily fracture. Dentinogenesis imperfecta is commonly associated with OI because both conditions involve problems with type I collagen, a key structural protein in bones and teeth.

Patients with OI often present with frequent bone fractures and deformities in the skeletal structure due to the inherent weakness in their bones. The connection to dentinogenesis imperfecta is established through the shared collagen abnormalities, reinforcing the relevance of this option in the context of osteogenesis imperfecta.

The other options do not typically associate with osteogenesis imperfecta. Increased uric acid levels are more commonly associated with conditions such as gout. Adenoma sebaceum is a skin manifestation commonly seen in tuberous sclerosis, which is unrelated to OI. Tramline intracranial calcifications may occur in various conditions, including certain congenital infections but are not a characteristic of osteogenesis imperfecta. Thus, dentinogenesis imperfecta is the most

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