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Radiology
Acrofacial Dysostosis
Built from Obstetric Imaging
What’s inside
7 sections · 44 slides
Overview
- Why this topic matters
- What you will learn
What a facial dysostosis is
Naming the two families before any detail
- Face only, or face plus limbs
- The two families of facial dysostosis
- Two families, side by side
- How the acrofacial group is sorted
- Three ways the limb defect falls
How common, and why they happen
Numbers first, then the genes behind them
- 700+
- Treacher-Collins syndrome: how it runs in families
- The four genes behind Treacher-Collins syndrome
- What those four genes are actually doing
- Ribosomes, in one slide
- Nager and Rodriguez syndrome: one gene, two severities
- From SF3B4 to a malformed baby
- What splicing means
What these babies look like
Treacher-Collins first, then Nager and Rodriguez
- Treacher-Collins syndrome: the facial bones
- Treacher-Collins syndrome: the eyes and eyelids
- Treacher-Collins syndrome: the ears and hearing
- What Treacher-Collins syndrome spares
- Classic signs of Treacher-Collins syndrome
- Nager syndrome: the face
- Nager syndrome: the arms and hands
- Short forearm bones and absent thumbs on radiograph
- Rodriguez syndrome: the severe end of the same disorder
- Hand radiograph showing severe digital reduction
- Classic signs of Nager and Rodriguez syndrome
- Classic signs of Nager and Rodriguez syndrome
Finding it on the scan
Ultrasound first, then where MRI helps
- Ultrasound in Treacher-Collins syndrome
- Small lower jaw on three-dimensional ultrasound
- Ultrasound in Nager and Rodriguez syndrome
- Receding chin and reduced digits on three-dimensional ultrasound
- Missing lower leg bones on three-dimensional ultrasound
- Where MRI adds something
- What imaging cannot settle on its own
Planning the birth, and afterwards
The airway is the thing that must be arranged in advance
- The prenatal pathway once you suspect it
- Prenatal management
- Pregnancy and delivery care
- After birth: Treacher-Collins syndrome
- After birth: Nager and Rodriguez syndrome
What to take away
The short version for the referring clinician
- What the referring physician needs to know
- Key points
- References
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition