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Osteogenesis imperfecta
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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.

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Notes

Cellular and molecular biology

Cellular biology

Cellular biology
Cellular structure and function
Cell membrane
Selective permeability of the cell membrane
Extracellular matrix
Cell-cell junctions
Endocytosis and exocytosis
Osmosis
Resting membrane potential
Nernst equation
Cytoskeleton and intracellular motility
Cell signaling pathways
Disorders of cellular biology
Leukodystrophy
Adrenoleukodystrophy (NORD)
Zellweger spectrum disorders (NORD)
Primary ciliary dyskinesia
Alport syndrome
Ehlers-Danlos syndrome
Osteogenesis imperfecta
Marfan syndrome
Vitamin C deficiency
Peroxisomal disorders: Pathology review

Assessments
Osteogenesis imperfecta

Flashcards

0 / 11 complete

Questions

1 / 7 complete
High Yield Notes
16 pages
Flashcards

Osteogenesis imperfecta

11 flashcards
Questions

USMLE® Step 1 style questions USMLE

7 questions

USMLE® Step 2 style questions USMLE

2 questions
Preview

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