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Radiology
Fryns Syndrome
Built from Obstetric Imaging
What’s inside
10 sections · 70 slides
Meeting the condition
What it is, why it is worth naming, and how the topic fits together
- A hole in the breathing muscle, and much more
- What Fryns syndrome is
- The four hallmarks in plain words
- Why an imager should care
- How this topic is organised
Making the diagnosis
Six clinical features, most recently reviewed and revised in 2005
- Two ways to reach the diagnosis
- The six major features: first three
- The six major features: last three
- The face described in the criteria
- The company this syndrome keeps
- Family history and what it signals
- How an autosomal recessive condition passes down
How often it happens
Prevalence figures, and the link with diaphragmatic hernia
- Reading the prevalence number carefully
Why it happens
Recessive inheritance, the PIGN gene, and the chromosome look-alikes
- Inherited from two silent carriers
- The gene behind it
- From faulty gene to malformed baby
- What is still unsettled about the gene
- Chromosome faults that copy the picture
- Two ways to look at the chromosomes
How the baby presents
From the delivery room to the few children who survive
- The presentation follows the anomalies
- Why the crowded chest starves the lung
- The hard number on outcome
- What survivors live with
- Findings on examination after birth
- Findings on examination after birth
- A note on where these signs come from
- The heart defects seen most often
What the ultrasound shows
The trigger finding, the long list of associations, and the first trimester
- The finding that should raise the question
- Stomach beside the heart at twenty weeks
- The kind of hole Fryns syndrome makes
- The diaphragm seen from below
- Brain findings to look for
- Limb, kidney and gut findings
- Face and heart findings
- The prenatal ultrasound checklist
- Can it be seen in the first trimester
- Suspected chest floor defect at thirteen weeks
- Fluid behind the neck as an early clue
- Measuring the fluid layer behind the fetal neck
- Growth and amniotic fluid
- What three-dimensional ultrasound adds
- The honest limits of prenatal detection
Beyond ultrasound
Where fetal MRI and fetal echocardiography earn their place
- What fetal MRI is used for here
- Why lung volume is worth measuring
- Why every such fetus needs a heart scan
The look-alikes
Conditions that copy the picture but carry a different future
- Why getting the label right matters
- The main conditions to exclude
- Growth is the first discriminator
- Telling the two overgrowth pictures apart
- Pallister-Killian: the closest mimic
- Pallister-Killian: the differences that count
- Fryns syndrome versus Pallister-Killian
- The other condition caused by the same gene
What can be done
Testing before birth, and care for the babies who reach the nursery
- Three routes to a molecular diagnosis
- Choosing the right test
- Testing the family, not just the fetus
- Nothing to offer before birth
- Stabilising the newborn
- The order of newborn care
- Following the children who survive
Bringing it together
What the referring physician needs to know, and the key points
- What the referring physician needs to know
- What the referring physician needs to know
- Key points to carry away
- Key points to carry away
- “
- References
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition