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Radiology
Craniosynostosis
Built from Obstetric Imaging
What’s inside
10 sections · 76 slides
Overview
- What this topic covers
The normal fetal skull
Plates, seams and soft spots — and why they stay open
- The skull of a fetus is not one bone
- Where the cranial sutures lie
- The sutures seen from the side
- The sutures seen from above
- Reading the seam map
- The fetal skull from behind
- The seams of the fetal vault
- Why the seams must stay open
- When the sutures normally close
What craniosynostosis means
A finding, not a diagnosis
- Craniosynostosis, defined
- Two routes to a fused seam
- Primary or secondary
- Isolated or part of a syndrome
- Why we want to find it before birth
How common, and in whom
Numbers, sutures and risk factors
- 1:2000
- How often it happens
- The syndromes you will meet most
- Which seam usually gives way
- Suture involvement in isolated craniosynostosis
- Secondary craniosynostosis
- Reported prenatal risk factors
The genetics behind it
From one gene in 1993 to more than sixty today
- From one gene to more than sixty
- How the gene list grew
- FGFR2 — the commonest culprit
- FGFR3 and the non-FGFR genes
- Why the faulty receptor closes the seam
- The chain from gene to fused seam
- A partial list of the syndromes
- Genetic Syndromes With Craniosynostosis as a Common Feature
- Genetic Syndromes With Craniosynostosis as a Common Feature (continued)
- Genetic Syndromes With Craniosynostosis as a Common Feature (continued)
- Genetic Syndromes With Craniosynostosis as a Common Feature (continued)
- Genetic Syndromes With Craniosynostosis as a Common Feature (continued)
- Abbreviations used in the syndrome list
The shapes the skull takes
One growth rule explains every pattern
- One rule explains every shape
- How a fused seam reshapes the head
- Long and narrow: the sagittal suture
- Broad and tall: coronal and lambdoid
- Lopsided and triangular
- When several seams fuse at once
- Which suture gives which head shape
What else to look for
Faces, hands and feet name the syndrome
- When craniosynostosis shows itself
- An odd head shape means look wider
- Apert syndrome
- The Apert profile on two-dimensional scanning
- The same profile rendered in three dimensions
- The mitten hand of Apert syndrome
- Pfeiffer syndrome
- What it means for the child's development
Finding it on ultrasound
Shape first, then the seams themselves
- The first thing you notice
- Contour clues, and how they change
- An abnormal calvarial contour
- Adding the third dimension
- Normal coronal and lambdoid sutures at 20 weeks
- What to notice in the skeletal-mode image
- When to add MRI or CT
- Differential diagnosis
- The prenatal pathway, end to end
What happens next
Counselling, delivery planning and surgery
- Before birth: nothing to treat, plenty to do
- Genetic testing before birth
- Counselling the family
- Planning the delivery
- The birth itself
- Where the birth should happen
- Care in the first days
- Surgery is the mainstay
- What the referring clinician needs to know
Key points and sources
What to carry away, and where it came from
- Key points
- Key points, continued
- Suggested readings
- References
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition