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Published
12/28/2023
What mutation leads to achondroplasia? Specifically, what is the pathogenesis of the abnormal phenotype?
Published
12/28/2023
Why do patients with achondroplasia have short extremities but normal sized head and chest?
Published
12/28/2023
A patient presents with multiple fractures, blue sclera and hearing loss. What does he have? What is the underlying defect (and inheritence pattern)?
Published
12/28/2023
Why are the sclera blue in osteogenesis imperfecta patients?
Published
12/28/2023
What is osteopetrosis? Describe the pathology that results from the most typical underlying genetic defect:
Published
12/28/2023
What are the clinical features of osteopetrosis (5)? Can you describe the pathophysiology of each?
Published
12/28/2023
What is the treatment for osteopetrosis, and why does it work?
Published
12/28/2023
What is vitamin D deficiency called in adults vs. children?
Published
12/28/2023
What are some clinical features of vitamin D deficiency (rickets) in children (4)?
Published
12/28/2023
What laboratory findings are seen in osteomalacia (4)?
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