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Radiology
Cornelia de Lange Syndrome
Built from Obstetric Imaging
What’s inside
9 sections · 68 slides
Overview
- What this deck covers
The condition in outline
What the syndrome is, how common it is, and why it hides
- A syndrome, not a single defect
- The systems it touches
- Development and behaviour
- One name, a whole spectrum
- 1:10,000
- Who it affects
- Why the diagnosis is elusive
The genes and the mechanism
Seven genes, one protein ring, and how it is inherited
- How the diagnosis is actually made
- Seven genes, one condition
- NIPBL, the main gene
- Where the gene change comes from
- SMC1A and SMC3, the milder genes
- The rest of the gene list
- Cohesin, the ring that holds the copies together
- Parts of the cohesin complex
- From a gene change to the syndrome
- Why CdLS is called a cohesinopathy
- Two routes of inheritance
- What autosomal dominant means
- An autosomal dominant family tree
- When the gene test comes back negative
What the child looks like
Growth, learning, face, limbs and the other organs
- Severity tracks the gene
- Growth failure, the most constant sign
- Learning and behaviour
- The face: shape of the head and jaw
- The face: the hair around it
- Limbs: the arm
- Limbs: the hand
- Missing digits on the fetal hand
- The heart and the other organs
- Senses, teeth and immunity
What the scan shows
First-trimester clues, the second-trimester checklist, and the classic signs
- No single sign is specific
- Blood and neck clues in the first trimester
- Measuring nuchal translucency
- Second-trimester checklist: head and body
- Second-trimester checklist: limbs and organs
- The eyelash clue
- Scans matched to the child after birth
- Fetal facial profile, two-dimensional and 3D
- Upper limbs with too few digits
- Classic signs: the first five
- Classic signs: the second five
- Where magnetic resonance imaging fits
What else could it be
Conditions that copy the imaging picture
- Conditions that can look similar
- Unpacking the name CHOPS
Confirming it before birth
Sampling, gene panels, cell-free DNA and recurrence risk
- The prenatal pathway
- Testing when the family gene is known
- How amniocentesis is done
- Chorionic villi under the microscope
- Testing when there is no family history
- Cell-free DNA screening
- What a normal result does and does not tell you
- Risk of it happening again
Treatment and follow-up
Nothing to give before birth, plenty to organise after it
- Before birth
- After birth
- What research is chasing
Bringing it together
What the referring physician needs to know
- For the referring physician: when to think of it
- For the referring physician: what to say
- Key points
- 60%
- Five things to carry away
- References
- References (continued)
- References (continued)
- References (continued)
- Suggested readings
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition