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Radiology
Other Type II Collagen Disorders
Built from Obstetric Imaging
What’s inside
6 sections · 46 slides
Overview
- What this topic is about
One gene, one protein
Why a single collagen fault reaches bone, eye, ear and spine
- What type II collagen actually does
- Where type II collagen sits in the body
- Why the trouble reaches past the bones
- COL2A1: the gene behind all of them
- Mosaicism: when a parent carries it only partly
- Two kinds of gene fault, two kinds of disease
- Why swapping one glycine does so much damage
- From gene fault to the fetus you scan
- The disorders in this spectrum, part 1
- The disorders in this spectrum, part 2
- What the whole group shares
- 1 in 40,000
Achondrogenesis II and hypochondrogenesis
The two forms that declare themselves before birth
- Achondrogenesis II: what it is
- Achondrogenesis II: the face and the outcome
- Newborn radiograph in achondrogenesis II
- Close view of the chest and upper spine
- Hypochondrogenesis: the milder twin
- Newborn radiograph in hypochondrogenesis
- Close view of the lower spine and pelvis
- What happens to these pregnancies
- Side by side
Stickler syndrome
The form that survives, and pays for it in joints, eyes and ears
- Stickler syndrome: what it is
- Stickler over a lifetime: joints and spine
- Stickler: the eyes and the ears
What the scan shows
First trimester clues, second trimester signature
- First trimester clues
- The second trimester ultrasound signature
- Flattened fetal face on three-dimensional ultrasound
- Short ribs with cupped ends on ultrasound
- The fluid findings that travel with it
- Stickler syndrome before birth
- Small fetal jaw on two-dimensional ultrasound
- Small fetal jaw on three-dimensional ultrasound
- Where MRI and CT fit in
- Confirming the diagnosis after birth
- Classic signs to look for
- What else could it be?
Counselling and care
What to offer the parents, before and after delivery
- Prenatal plan for the two lethal forms
- What the referring physician needs to know
- Planning a Stickler delivery
- Living with Stickler syndrome
- Key points
- References
- References (continued)
- Suggested reading
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition