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Radiology
Fraser Syndrome
Built from Obstetric Imaging
What’s inside
8 sections · 39 slides
Overview
- What you will learn here
The syndrome in one look
What Fraser syndrome is, and the three features that name it
- What Fraser syndrome is
- The three features that name the syndrome
- Cryptophthalmos: the eye that never opened
- Fetal orbits with covered eyes, beside a normal orbit
- Reading those orbit pictures
- Normal fetal orbit at the same gestational age
- Syndactyly: fingers that stayed joined
- Urogenital defects: the plumbing that did not form
Making the diagnosis
The published criteria, and what can realistically be seen before birth
- Why a checklist is needed at all
- The published criteria
- The two ways to reach the diagnosis
- What prenatal diagnosis actually leans on
How common it is, and why it happens
Numbers, inheritance, the two genes, and the cell-death defect behind them
- 0.43
- What those two numbers tell you
- How it is inherited
- Two carrier parents and the four possible children
- The genes behind it
- Why so many parts stay stuck together
- Apoptosis in plain words
What the baby is like
Clinical presentation and outcome
- Clinical presentation
- What happens to affected babies
What the scan shows
Ultrasound findings, the pictures behind them, and the role of MRI
- The ultrasound picture
- What the sonographer is documenting
- Empty renal fossa on grayscale ultrasound
- Reading the empty renal fossa
- No renal arteries on color Doppler
- Why color Doppler is the confirming step
- Other imaging that helps
The look-alikes
Conditions that copy parts of the picture
- Why the differential is wide
- What else could it be
- Two terms from that list
What can be offered
Counselling before birth, and care after it
- Before birth
- After birth
- What the referring physician needs to know
- Key points
- Suggested readings
- References
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition