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Radiology
Campomelic Dysplasia
Built from Obstetric Imaging
What’s inside
8 sections · 52 slides
Overview
- What this topic covers
What campomelic dysplasia is
Start with the name, then build the picture
- Start with the name
- What the condition actually is
- Why it matters so much
- The rare form without bent bones
- How common, and in whom
The gene behind it
One transcription factor, two very different jobs
- One gene: SOX9
- The two jobs SOX9 does
- Where SOX9 acts as bone forms from cartilage
- What to notice in that diagram
- How the fault is inherited
- The kinds of SOX9 fault seen
- From gene fault to newborn collapse
- Risk in a future pregnancy
What the baby looks like
Face, neck, chest, limbs and genitalia
- Where the condition shows itself
- The face and head
- Small lower jaw on the fetal scan
- The skeleton: shoulder and pelvis
- Normal shoulder blade for comparison
- Small shoulder blades on the scan
- The long bones of the limbs
- Bent thigh bone and a dislocated joint
- Foot turned in and down
- The neck and the chest
- Curved neck spine on the fetal scan
- The airway and breathing
- Sex reversal in some babies
Seeing it before birth
Ultrasound first, MRI rarely
- Fetal limbs on a mid-pregnancy anomaly scan
- What first raises suspicion on ultrasound
- More ultrasound findings
- Why 3D and 4D ultrasound help
- Where MRI fits
Confirming the diagnosis
Ultrasound suspects; genes and x-rays confirm
- Two routes to a definite answer
- What confirms it, and when
- The x-ray picture: bones and joints
- The x-ray picture: spine and pelvis
- The classic signs, in one list
- What else could it be
- Rarer conditions on the differential
Management and counselling
Nothing to treat before birth - everything to plan
- The path once a skeletal dysplasia is suspected
- Before birth
- At delivery
- After birth
- The gonads need a decision too
- If the baby survives the newborn period
- What the referring physician needs to know
Take home
The five things to remember
- Key points: what you see
- Key points: cause and outcome
- Suggested readings
- References
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition