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Osteogenesis imperfecta

Summary of Osteogenesis imperfecta
Osteogenesis imperfecta is a congenital bone disorder characterized by brittle bones that are prone to fracture. Osteogenesis imperfecta may present with shorter height, neurological features including communicating hydrocephalus, basilar invagination, and seizures, blue sclerae, hearing loss, and other complications. Associated fractures may cause acute or chronic pain, reduced quality of life, and depression.



Musculoskeletal system


Pediatric musculoskeletal conditions
Musculoskeletal injuries and trauma
Bone disorders
Joint disorders
Muscular disorders
Neuromuscular junction disorders
Other autoimmune disorders
Musculoskeletal system pathology review

Osteogenesis imperfecta


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High Yield Notes
16 pages

Osteogenesis imperfecta

11 flashcards

USMLE® Step 1 style questions USMLE

7 questions

USMLE® Step 2 style questions USMLE

2 questions

A 5-week-old boy is seen at the pediatrics department after experiencing multiple long bone fractures. The parents explain that the patient has been seen by multiple pediatric orthopedists after three fractures in the past week. Child abuse is ruled out, and physical examination is otherwise normal, but a hearing test reveals significant hearing loss. Which of the following is the most likely diagnosis in this patient?

External References