Osteogenesis imperfecta
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Osteogenesis imperfecta
Disease-specific pathology
Cardiovascular disorders
Aneurysms
Aortic valve disease
Atherosclerosis and arteriosclerosis: Pathology review
Atrial septal defect
Cardiac and vascular tumors: Pathology review
Cor pulmonale
Dyslipidemias: Pathology review
Heart failure
Heart failure: Pathology review
Mitral valve disease
Patent ductus arteriosus
Pulmonary embolism
Pulmonary hypertension
Vasculitis: Pathology review
Ventricular septal defect
Endocrine disorders
Adrenal masses: Pathology review
Multiple endocrine neoplasia: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Pituitary tumors: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
Eye, ear, nose, and throat disorders
Eye conditions: Inflammation, infections and trauma: Pathology review
Eye conditions: Retinal disorders: Pathology review
Nasal, oral and pharyngeal diseases: Pathology review
Thyroid nodules and thyroid cancer: Pathology review
Vertigo: Pathology review
Gastrointestinal disorders
Diverticulosis and diverticulitis
Encopresis
Esophageal disorders: Pathology review
Gastrointestinal bleeding: Pathology review
Intussusception
Malabsorption syndromes: Pathology review
Neuroendocrine tumors of the gastrointestinal system: Pathology review
Genetic disorders
Angelman syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Ehlers-Danlos syndrome
Fragile X syndrome
Klinefelter syndrome
Leukodystrophy
Marfan syndrome
Myotonic dystrophy
Neurofibromatosis
Osteogenesis imperfecta
Patau syndrome (Trisomy 13)
Prader-Willi syndrome
Sickle cell disease (NORD)
Turner syndrome
Hematological disorders
Blood transfusion reactions and transplant rejection: Pathology review
Metabolic acidosis
Metabolic alkalosis
Non-hemolytic normocytic anemia: Pathology review
Platelet disorders: Pathology review
Respiratory acidosis
Respiratory alkalosis
Thrombosis syndromes (hypercoagulability): Pathology review
Integumentary disorders
Pigmentation skin disorders: Pathology review
Papulosquamous and inflammatory skin disorders: Pathology review
Vesiculobullous and desquamating skin disorders: Pathology review
Metabolic disorders
Galactosemia
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hyperlipidemia
Hypertriglyceridemia
Lactose intolerance
Metabolic acidosis
Metabolic alkalosis
Phenylketonuria (NORD)
Tay-Sachs disease (NORD)
Musculoskeletal disorders
Back pain: Pathology review
Seronegative and septic arthritis: Pathology review
Myalgias and myositis: Pathology review
Neurodevelopmental disorders
Disruptive, impulse control, and conduct disorders
Fetal alcohol syndrome
Learning disability
Shaken baby syndrome
Tourette syndrome
Neurologic disorders
Alzheimer disease
Headaches: Pathology review
Traumatic brain injury: Pathology review
Spina bifida
Nutritional disorders
Beriberi
Excess Vitamin A
Excess Vitamin D
Folate (Vitamin B9) deficiency
Iodine deficiency
Kwashiorkor
Marasmus
Niacin (Vitamin B3) deficiency
Vitamin B12 deficiency
Vitamin C deficiency
Vitamin D deficiency
Vitamin K deficiency
Wernicke-Korsakoff syndrome
Zinc deficiency
Psychiatric disorders
Amnesia
Bipolar disorder
Body dysmorphic disorder
Body focused repetitive disorders
Cluster A personality disorders
Cluster B personality disorders
Cluster C personality disorders
Delusional disorder
Dissociative disorders
Factitious disorder
Major depressive disorder
Neuroleptic malignant syndrome
Phobias
Premenstrual dysphoric disorder
Schizoaffective disorder
Schizophreniform disorder
Seasonal affective disorder
Serotonin syndrome
Somatic symptom disorder
Renal disorders
Hyperkalemia
Hypernatremia
Hyponatremia
Metabolic acidosis
Metabolic alkalosis
Poststreptococcal glomerulonephritis
Prerenal azotemia
Respiratory disorders
Chronic bronchitis
Cor pulmonale
Emphysema
Pneumonia
Pulmonary embolism
Respiratory acidosis
Respiratory alkalosis
Sexual and reproductive disorders
Amenorrhea: Pathology Review
Benign breast conditions: Pathology review
Disorders of sex chromosomes: Pathology review
Erectile dysfunction
Female sexual interest and arousal disorder
Genito-pelvic pain and penetration disorder
Male hypoactive sexual desire disorder
Orgasmic dysfunction
Penile conditions: Pathology review
Testicular and scrotal conditions: Pathology review
Uterine disorders: Pathology review
Vaginal and vulvar disorders: Pathology review
Sleep disorders
Bruxism
Insomnia
Narcolepsy (NORD)
Night terrors
Assessments
Osteogenesis imperfecta
Flashcards
0 / 11 complete
USMLE® Step 1 questions
0 / 3 complete
High Yield Notes
16 pages
Flashcards
Osteogenesis imperfecta
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
Image reproduced from Wikimedia Commons
Laboratory results are within normal limits. Plain radiograph shows a fracture of the olecranon. Which of the following is the most likely explanation for the patient’s presentation?
Memory Anchors and Partner Content
External References
First Aid
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Bisphosphonates p. 499
osteogenesis imperfecta treatment p. 49
Blue sclerae p. 49
osteogenesis imperfecta p. 714
Bone disorders
osteogenesis imperfecta p. 49
Child abuse p. 579
osteogenesis imperfecta and p. 49
Dentin
osteogenesis imperfecta p. 49
Hearing loss p. 552
osteogenesis imperfecta p. 49
Osteogenesis imperfecta p. 49
bisphosphonates p. 499
collagen and p. 48
presentation p. 714
Sclerae p. 553
osteogenesis imperfecta p. 49
Teeth
osteogenesis imperfecta p. 49
External Links
Summary
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by impaired production of type 1 collagen, an essential protein in the development and maintenance of bones and connective tissue. Collagen provides strength and support to the bones, and in individuals with OI, the collagen produced is weak, leading to bones that are brittle and prone to fractures.
OI may present with shorter height and neurological features, including communicating hydrocephalus, basilar invagination, 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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