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Radiology
Osteogenesis Imperfecta
Built from Obstetric Imaging
What’s inside
6 sections · 54 slides
Overview
- What this session covers
What the disorder is
Bone that breaks too easily, and why
- Bones that break too easily
- It is not only about bone
- One name, very different diseases
- The three groups used in practice
- How OI is grouped, and why it is messy
- 1 in 10,000
The three clinical groups
Mild, severe deforming, and lethal around birth
- Mild OI — the common form
- Mild OI — healing, teeth and eyes
- Why mild OI is missed before birth
- Severe deforming OI — the picture
- Severe deforming OI — how it is passed on
- Severe deforming OI — the lungs
- Severe deforming OI — brain and nerves
- Severe deforming OI — the fractures
- Perinatal lethal OI — what it is
- Perinatal lethal OI — findings in the womb
Genes and what goes wrong in bone
Collagen, and the disorganised bone that replaces it
- The genes behind it
- From a faulty gene to a fragile skeleton
- What the bone looks like down the microscope
Seeing it on ultrasound
The cardinal signs, and when they appear
- How the diagnosis usually comes to light
- How early can it be seen
- Cardinal signs of the lethal form at a glance
- Bowing of a fetal long bone
- Bending of the fetal ribs
- Bones that look wrinkled or crumpled
- A skull so soft the brain shows through
- A skull that squashes under the probe
- Look at the hands to separate the look-alikes
- Severe deforming OI on ultrasound
- What 3D and 4D ultrasound add
- Where cross-sectional imaging stands
- Confirming the diagnosis after delivery
- Newborn radiograph in severe lethal disease
- Patchy ossification of the skull vault
- Classic signs of the lethal form
- Classic signs of the lethal form (continued)
- Classic signs of severe deforming OI
- Conditions that can look the same
Counselling, testing and treatment
From the suspicious scan to the newborn's care
- The path after a suspicious scan
- When OI is suspected before birth
- Why molecular testing is worth doing
- Counselling on the risk of recurrence
- Care of the newborn
- Drug treatment
- What the referring physician needs to know
- What the referring physician needs to know (continued)
- Key points
- Key points (continued)
- Suggested readings
- References
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition