Which of the following is false regarding brittle bone disease?
Correct Answer: It is caused by defects in type 2 collagen
Description: Brittle bone disease is another name for osteogenesis imperfecta (OI). It is due to defects in type 1 collagen, not type 2 collagen. There are 12 types of OI, with type 1 being the most common. Triad of fragile bones, blue sclera and deafness is known as van der Hoeve syndrome. Treatment includes bisphosphonate therapy and ohopedic rehabilitation. Ref: Nelson textbook of pediatrics 21st edition pgno: 3737
Category:
Pediatrics
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