Archive Of Standardized Exam Questions: Osteogenesis Imperfecta


This page is dedicated to organizing various examples of standardized exam questions whose answer is osteogenesis imperfecta. While this may seem a odd practice, it is useful to see multiple examples of how osteogenesis imperfecta will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable. 


When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for osteogenesis imperfecta

  • Multiple fractures at birth that result in limb deformities
  • Blue sclerae: this is VERY specific for this condition

Question # 1

A 23 year old female experiences a stillbirth. This is her first pregnancy, and she has received no prenatal care. The baby is noted to have multiple fractures, blue sclera, and short/bent extremities. Her past medical history is remarkable for a seizure disorder, for which she was taking phenytoin regularly during the course of her pregnancy. She explains at she had been eating poorly, and occasionally was drinking alcohol during the course of her first trimester. She currently lives with an abusive boyfriend, and explains that she underwent various episodes of abuse during the pregnancy. What was most likely responsible for the death of her fetus?

Explanation # 1

Fetal death + blue sclera (very specific!) + multiple fractures causing limb deformity = osteogenesis imperfecta

Question # 2

Explanation # 2


Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:

  • Cause: Type I collagen defect. There is an issue forming the collagen triple helix. 



Page Updated: 10.15.2016