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Radiology
Atelosteogenesis Disorders
Built from Obstetric Imaging
What’s inside
8 sections · 48 slides
Overview
- What this topic covers
Understanding the disorder
What atelosteogenesis means, and the three types that sit inside the name
- Bones that never finish forming
- What atelosteogenesis is
- The three types at a glance
- What sets each type apart
- Boomerang dysplasia, the rare relative
- How the diagnosis is reached
Genes and inheritance
Two genes, two very different patterns of inheritance, two different recurrence risks
- The genes behind atelosteogenesis
- Two patterns of inheritance
- Why most cases appear out of the blue
How the baby looks
The face, the limbs, the hands and feet — and why the newborn period is so dangerous
- Features shared by AO I and AO III
- Atelosteogenesis I in detail
- Short upper and middle limb segments on 3D ultrasound
- Broad, paddle-shaped digits
- Atelosteogenesis II in detail
- Thumb held out to the side
- Flattened fetal face profile on 3D ultrasound
- A missing forearm bone
- Why newborns with AO usually die
- What happens to these babies
What ultrasound shows
The prenatal picture: when to suspect AO, and how the three types differ on the scan
- When to suspect AO on a scan
- Three- and four-dimensional ultrasound
- Ultrasound findings in AO I
- The face in AO I on ultrasound
- Ultrasound findings in AO II
- What magnetic resonance imaging adds
Radiographs after birth
The newborn film is what finally separates the three types from one another
- Why the newborn radiograph matters
- Newborn radiograph in atelosteogenesis I
- Limb findings on film in AO I
- Spine and pelvis on film in AO I
- Newborn radiograph in atelosteogenesis II
- Radiographic features of AO II
- Long bone shapes in AO II
- Radiographic features of AO III
- What the cartilage growth plate shows
- Classic signs to carry away
Look-alike disorders
Five conditions that resemble AO, and the genes that explain why
- Conditions that mimic atelosteogenesis
- Differential diagnosis, gene by gene
Counselling and care
What to test, what to discuss, and how the plan changes before and after delivery
- Working it up before birth
- Discussing the pregnancy
- Care after birth
- What the referring physician needs to know
- Key points
- Key points continued
- Suggested readings
- References
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition