🍪
'Tis the season sale SAVE 30% now
Medicine (MD/DO)
/
Courses
/
Biochemistry
/
Other Genetic Disorders
/
Osteogenesis Imperfecta

Master Osteogenesis Imperfecta with a Mnemonic

Textbooks can be overwhelming. Ditch the memorization and unlock a fun way to learn! Picmonic uses a catchy mnemonic, captivating stories, and unforgettable characters to make osteogenesis imperfecta symptoms & types stick.

DOWNLOAD PDF
Osteogenesis Imperfecta

Osteogenesis Imperfecta

Ostrich-genie "I'm Perfect!"
Picmonic
Osteogenesis imperfecta is a genetic bone disorder leading to brittle bones, susceptibility to fracture and other manifestations such as hearing abnormalities and dental imperfections. It can be caused by a variety of gene defects, but the most common presentation is inherited in an autosomal dominant manner and yields a defect in Type 1 Collagen production.
9 KEY FACTS
PATHOPHYSIOLOGY
Autosomal Dominant
Domino

The most common presentations of osteogenesis imperfecta are inherited in an autosomal dominant manner.

Decreased Type I Collagen Production
Down-arrow Type (1) Wand Cola-gem

People with osteogenesis imperfecta (OI) have defective connective tissue, as they are deficient in Type 1 collagen. In the most common form of OI, there is an issue with the amino acids stabilizing the collagen triple helix, leading to decreased production of Type 1 collagen.

SYMPTOMS
Phenotypically Diverse
Phoenix-types Diverse presentations

OI is known for having phenotypically diverse presentations, as there are over 15 variations of the disease. Some patients may show severe symptoms and major deformities while others may have minor hearing problems.

Brittle Bone Disease
Breaking/Flaking Bones

This is a disease of brittle bones, as type 1 collagen is an integral part of bone structure. Patients may show brittle bones, have multiple fractures before or during birth, and can even suffer from limb shortening from multiple fractures to the same area.

Fractures from Minimal Trauma
Fracture from Mini Trauma-spike

As bone structure is compromised, patients can develop fractures from minimal trauma.

Confused with Child Abuse
Suspicion of Child being Abused

In severe presentations of OI, patients can develop fractures as children from minimal trauma. When presented to the physician, multiple, various fractures can often be a tip-off of child abuse. Thus, OI can sometimes be mistaken for abuse without a thorough history.

Hearing Loss
Deaf-guy

Hearing loss is progressive in these patients and can begin at an early age. Up to 50% of patients are affected by this. The pathophysiology is similar to otosclerosis and is an audio conduction pathology.

Dental Imperfections
Bad teeth

Commonly, patients develop dental imperfections with this disease, due to a lack of dentin. Findings include obliterated pulp cavities, opalescent teeth, and constricted coronal-radicular junctions.

Blue Sclera
Blue-eyed Skull

As type I collagen formation is defective, the sclera of the eye is much thinner than normal. Because of this, the underlying choroidal veins show through, giving the eye a blue or sometimes grey color.

DOWNLOAD PDF

Recommended Picmonics

picmonic thumbnail
Ehlers-Danlos Syndrome Disease
picmonic thumbnail
Ehlers-Danlos Syndrome Types
picmonic thumbnail
Marfan Syndrome
picmonic thumbnail
Thymic Aplasia (DiGeorge Syndrome)
picmonic thumbnail
Cri Du Chat

Take the Osteogenesis Imperfecta Quiz

Picmonic's rapid review multiple-choice quiz allows you to assess your knowledge.

It's worth every penny

Our Story Mnemonics Increase Mastery and Retention

Memorize facts with phonetic mnemonics

Unforgettable characters with concise but impactful videos (2-4 min each)

Memorize facts with phonetic mnemonics

Ace Your Medicine (MD/DO) Classes & Exams with Picmonic:

Over 1,990,000 students use Picmonic’s picture mnemonics to improve knowledge, retention, and exam performance.

Choose the #1 Medicine (MD/DO) student study app.

Picmonic for Medicine (MD/DO) covers information that is relevant to your entire Medicine (MD/DO) education. Whether you’re studying for your classes or getting ready to conquer the USMLE Step 1, USMLE Step 2 CK, COMLEX Level 1, or COMLEX Level 2, we’re here to help.

Works better than traditional Medicine (MD/DO) flashcards.

Research shows that students who use Picmonic see a 331% improvement in memory retention and a 50% improvement in test scores.