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Case of the Week 593


What is the most likely diagnosis?

  • 1 month old with blue sclerae



"Babygram"

  1. Rickets
  2. Hemophilia
  3. Osteopoikilosis
  4. Osteogenesis Imperfecta
  5. Scurvy

Additional image - None

 

 

Additional Images

 


None


Answer:

 

4. Osteogenesis Imperfecta

 

More (Click Discussion Tab)

 

 

Osteogenesis Imperfecta

 

General Considerations

  • Hereditary, non-sex linked disorder leading to increased fragility of the bones
  • Caused by mutations in genes that code for type I procollagen (COL1A1 and COL1A2)
  • Hearing loss occurs in half of Type I individuals
  • There are 4 types

MORE . . .

 


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This Week

1 month old with blue sclera
 
 
Some of the fundamentals of interpreting chest images
 
The top diagnostic imaging diagnoses that all medical students should recognize according to the Alliance of Medical Student Educators in Radiology
 
Recognizing normal and  key abnormal intestinal gas patterns, free air and abdominal calcifications
 
Recognizing the parameters that define a good chest x-ray; avoiding common pitfalls
 
How to recognize the most common arthritides




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LearningRadiology.com
is an award-winning educational website aimed primarily at medical students and radiology residents-in-training, containing  lectures, handouts, images, Cases of the Week, archives of cases, quizzes, flashcards of differential diagnoses and “most commons” lists, primarily in the areas of chest, GI, GU cardiac, bone and neuroradiology.