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Radiology
Skeletal Dysplasias An Overview
Built from Obstetric Imaging
What’s inside
8 sections · 54 slides
Overview
- What this session covers
What these disorders are
A large family of inherited bone and cartilage diseases
- Bones that grow wrongly from the start
- 750+
- Two names you will hear, and the line between them
- Why that line is now blurred
- One gene, very different babies
- Why gene discovery changed practice
How the skeleton is built
Two ways bone forms, and the growth plate that keeps it going
- Bone is laid down in two different ways
- Two routes of bone formation across life
- Notice in that figure
- Building a long bone, step by step
- How bones keep lengthening after birth
- Zones of the growth plate
- Growth plate seen under the microscope
- What the two growth plate pictures show
Genetics and recurrence risk
How these disorders travel through a family
- Every inheritance pattern is represented
- Why the pattern matters so much
- When the parent is only mildly affected
- When the parent looks completely normal
- The two mosaicisms side by side
Finding it before birth
Which disorders show when, and why the timing matters
- Better pictures, earlier answers
- Families who already know they are at risk
- What the first-trimester scan can catch
- The second-trimester anomaly scan
- Second-trimester fetal anomaly scan
- What early detection actually buys
- Other problems to look out for at birth
- Why a small chest is the dangerous finding
- The ones that show up late, or not at all
- “So was something missed on my scans?”
- When each group tends to declare itself
Scanning a fetus with short bones
An organised checklist, from head to foot
- Before you put the probe down
- Measure every long bone, on both sides
- Measure something the bones cannot fake
- Look at how the bone is built, not just its length
- Bowed and broken bones in a newborn
- Read the face and the skull
- Fetal skull sutures and fontanelles
- Count and measure the hands and feet
- An extra digit on the hand
- Assess the chest and the heart
- Check the spine, scapulae and clavicles
- What the finished checklist gives you
After the baby is born
Shared care, long-term outcome, and where families find support
- No single specialty can manage these children
- Who sits around the table
- The outlook is better than parents fear
- Point families to support, even before birth
Key points
What to carry away from this topic
- Key points, first half
- Key points, second half
- If you remember five things
- References
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition