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Radiology
Goldenhar Syndrome
Built from Obstetric Imaging
What’s inside
10 sections · 75 slides
Overview
- What this deck covers
What the syndrome is
One side of the face is built short — and the parts that go wrong all come from the same place in the embryo
- The idea in one slide
- Where in the embryo it goes wrong
- Branchial arches in the early embryo
- From one faulty block to a whole pattern
- Three names for the same condition
- Goldenhar syndrome and hemifacial microsomia
- Why the definition keeps moving
- What Goldenhar first described
- Features beyond the face
- The current classification
- Reading the classification
- What the big patient series showed
How common it is
Rare, but the published numbers disagree by almost tenfold
- 1:3500
- Making sense of those numbers
- Who it affects
Why it happens
Many roads lead in: blood supply, cartilage, single genes, missing chromosome pieces and drugs in pregnancy
- The core fault
- Proteins that build the arch
- The HMX1 enhancer story
- What has been linked to the syndrome
- Drugs and exposures in pregnancy
- Mycophenolic acid
- The twin signal
- Is it really a one-off event?
- Inheritance patterns reported
- What to say about recurrence risk
- The 22q11.2 region
- The 5p15 region
- Other candidate loci
- What sequencing has added
- How to test for a genetic cause
- What the tests actually find
- Why one gene will not explain it
What it looks like
A checklist that runs from the eye and ear to the spine, the heart, the thumb and the senses
- Most diagnoses come after birth
- One side, or both
- What the book's checklist covers
- Clinical Presentation of Goldenhar Syndrome
- Reported findings grouped by body system
- Skin tags in front of the ear
- A growth on the white of the eye
- A gap in the iris
- Cleft lip and cleft palate
- The jaw that comes out short
- Is intelligence affected?
- Patterns it travels with
- Why those associations matter
Finding it before birth
Ultrasound first, fetal MRI when bone gets in the way — and honest expectations about both
- Why prenatal detection is hard
- The first clues on ultrasound
- What can be seen directly
- Unequal orbits on a fetal face view
- Small eye and cleft lip on a surface view
- What three-dimensional ultrasound adds
- A small orbit on fetal MRI
- When fetal MRI earns its place
- Imaging after the baby is born
- “
What else looks like this
Thirteen named conditions share the face, the ear or the spine findings
- Why a differential list matters here
- Conditions to consider
- Conditions to consider (continued)
- And one more on the list
What can be done
Nothing before birth; a long, staged programme afterwards
- Before birth
- After birth
- The path a family walks
What the referring doctor needs to know
Be honest about what imaging can and cannot predict
- What you cannot predict
- When to refer
- Key points
- Six things to carry away
References
The chapter's own reference list
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Suggested readings
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition