What congenital condition is linked with autosomal dominant inheritance and collagen problems?

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!

The congenital condition associated with autosomal dominant inheritance and collagen problems is Osteogenesis imperfecta. This disorder is characterized by a defect in the production of collagen, specifically type I collagen, which is essential for the strength and structure of bones and various connective tissues.

Individuals with Osteogenesis imperfecta often present with frequent fractures, blue sclera, hearing loss, and dental problems, all stemming from the underlying defect in collagen. The autosomal dominant inheritance pattern means that a single copy of the mutated gene inherited from an affected parent can result in the condition. This mechanism contrasts with other choices, which either have different inheritance patterns or are unrelated to collagen synthesis.

For example, Lesch-Nyhan syndrome is X-linked recessive, primarily affecting males and is related to purine metabolism rather than collagen. Minimal change disease is primarily associated with nephrotic syndrome and does not involve collagen defects, while Sturge-Weber syndrome is a neurological condition linked to developmental anomalies that do not stem from collagen abnormalities. Therefore, Osteogenesis imperfecta stands out as the correct answer due to its clear association with both autosomal dominant inheritance and collagen-related problems.

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