Osteogenesis imperfecta




Osteogenesis imperfecta

Disease-specific pathology

Cardiovascular disorders


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


Esophageal disorders: Pathology review

Gastrointestinal bleeding: Pathology review


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


Marfan syndrome

Myotonic dystrophy


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


Glucose-6-phosphate dehydrogenase (G6PD) deficiency



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


Excess Vitamin A

Excess Vitamin D

Folate (Vitamin B9) deficiency

Iodine deficiency



Niacin (Vitamin B3) deficiency

Vitamin B12 deficiency

Vitamin C deficiency

Vitamin D deficiency

Vitamin K deficiency

Wernicke-Korsakoff syndrome

Zinc deficiency

Psychiatric disorders


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


Premenstrual dysphoric disorder

Schizoaffective disorder

Schizophreniform disorder

Seasonal affective disorder

Serotonin syndrome

Somatic symptom disorder

Renal disorders




Metabolic acidosis

Metabolic alkalosis

Poststreptococcal glomerulonephritis

Prerenal azotemia

Respiratory disorders

Chronic bronchitis

Cor pulmonale



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



Narcolepsy (NORD)

Night terrors


Osteogenesis imperfecta


0 / 11 complete

USMLE® Step 1 questions

0 / 3 complete

High Yield Notes

16 pages


Osteogenesis imperfecta

of complete


USMLE® Step 1 style questions USMLE

of complete

A 4-year-old girl is brought to the emergency department by her parent after a fall. The patient was running on the playground when she tripped and fell onto the mulch. She did not hit her head or lose consciousness. Past medical history is significant for several fractures that occured after minor trauma. Her parent also has a history of multiple fractures. The patient has been meeting most developmental goals but is experiencing language delays, for which she is scheduled to receive a hearing test in the upcoming week. The patient is at 15th and 20th percentile for height and weight, respectively. Vitals are within normal limits. Physical examination shows bruising along the left lateral thigh, knee, and elbow. Kyphoscoliosis is also noted. Examination of the patient’s oropharynx reveals the following finding:

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?  

External References

First Aid








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


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


osteogenesis imperfecta p. 49


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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