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Radiology
Facial Dysmorphism
Built from Obstetric Imaging
What’s inside
8 sections · 82 slides
Overview
- What this topic covers
- Why the fetal face is worth a careful look
- Everything the face can show you
- What the words mean
- How common is it?
- A very wide spectrum
- Pattern recognition is the whole skill
- Pathological Conditions With Facial Dysmorphism
- Reading that list
Deciding what is truly abnormal
Faces vary enormously - the first job is not to over-call
- Why detection is hard
- A profile that looked odd and was not
- Where to look on the profile
The forehead
Frontal bone shape is the loudest signal on a profile
- Two ways the forehead goes wrong
- Forehead that slopes backwards
- Sloping forehead in microcephaly
- What to do once microcephaly is suspected
- Forehead that bulges forward
- Syndromes behind a bulging forehead
- Apert syndrome: profile and skull views
- What to notice in those three views
- Closed coronal suture on the axial view
- Achondroplasia in the third trimester
- Reading the achondroplasia profile
The nose
Missing, misplaced or flattened - each points somewhere different
- When there is no nose at all
- A fleshy stump where the nose should be
- Absent nose with proboscis and close-set eyes
- What to notice in those three views
- A nose that is flat rather than missing
- Binder syndrome
- Binder syndrome and chondrodysplasia punctata
- Flattened nasal bridge and flat facial profile
- What to notice on the flat profile
The ears
Small, absent or misplaced ears often name the syndrome
- Always find the ears
- A small, incompletely formed ear
- Isolated or part of something bigger?
- When the ear is missing altogether
Complex facial abnormalities
When a whole region of the face fails to form
- One side of the face smaller than the other
- The spectrum it belongs to
- How OAVS is thought to happen
- How often, and does it come back?
- Making the diagnosis on ultrasound
- Look beyond the face in OAVS
- When is it called Goldenhar syndrome?
- Ear measurement and face in Goldenhar syndrome
- What to notice in those two views
- How OAVS turns out
- A face with no jaw
- Why the jaw never forms
- What triggers it
- How to suspect it on a scan
- Otocephaly: absent jaw and misplaced ears
- What to notice in those three views
- What else travels with otocephaly
- Turning a facial sign into a diagnosis
- Differential Diagnosis of Syndromes Presented With Facial Dysmorphism
- Differential Diagnosis of Syndromes Presented With Facial Dysmorphism (continued)
- How to use that table
Scanning the face
Three planes, a few measurements, and the role of 3D and MRI
- When the face can be examined
- Before you start scanning
- Use all three planes
- Why three planes and not one
- The midsagittal profile, top to bottom
- Normal fetal profile in the midsagittal plane
- Learn this picture first
- The parasagittal plane
- The coronal plane
- The transverse axial plane
- Judging the profile: eye versus ruler
- The measurements in detail
- What three-dimensional ultrasound adds
- Where magnetic resonance helps
After the diagnosis
What to tell the referring doctor, and what happens after birth
- Working out the differential
- Treatment after birth
- What the referring physician needs to know
- Craniofacial signs that carry syndrome risk
- Key points
- One-slide summary
- References
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition