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The first 25 slides, exactly as they appear. The full deck has 61 content slides.
Radiology
Fibroblast Growth Factor Receptor 3 (FGFR3) Disorders Thanatophoric Dysplasia, Achondroplasi
Built from Obstetric Imaging
What’s inside
7 sections · 61 slides
Overview
- What this topic covers
One gene, a family of bone disorders
What FGFR3 does, and what happens when it never switches off
- How a long bone gets longer
- The receptor that limits bone growth
- The disorders in the FGFR3 family
- Why they count as one family
- The two rare relatives
- One gene, three levels of severity
- Which ones show up before birth
How common it is, and why it happens
Inheritance, new mutations and the father's age
- 1 in 20,000
- How common, and in whom
- Passed on as autosomal dominant
- Why the father's age matters
- What is the chance it happens again?
- From gene fault to short bones
- Severity tracks the amount of extra signal
What each disorder looks like
Clinical and radiographic features, from most to least severe
- Thanatophoric dysplasia: head and face
- Thanatophoric dysplasia: limbs and hands
- Thanatophoric dysplasia: the chest is the problem
- Thanatophoric dysplasia on x-ray
- Achondroplasia: the limbs
- Achondroplasia: head and face
- Achondroplasia on x-ray: the long bones
- Achondroplasia on x-ray: spine and pelvis
- When both copies are affected
- Hypochondroplasia: usually a late diagnosis
- Hypochondroplasia: what is found
- Achondroplasia against hypochondroplasia
What ultrasound shows
The prenatal picture, disorder by disorder
- Thanatophoric dysplasia: the earliest signs
- Thanatophoric dysplasia by the second trimester
- Small chest and bulging abdomen at 20 weeks
- Flat nasal bridge and bulging forehead at 22 weeks
- Short fingers and the trident hand at 18 weeks
- Other things to look for in thanatophoric dysplasia
- Achondroplasia is a late diagnosis on ultrasound
- Fetal profile in achondroplasia at 24 weeks
- Face and trident hand at 30 weeks
- Achondroplasia: head size and amniotic fluid
- Where 3D and 4D imaging earn their place
- Hypochondroplasia before birth
- A near-normal fetal face at 28 weeks
- Four classic signs to look for
Other tests, and what else it could be
MRI, cell-free DNA and the differential diagnosis
- MRI and CT before birth
- Testing the mother's blood for the mutation
- What else could look like this?
Care before and after birth
Counselling, delivery planning, newborn risks and treatment
- The path after short bones are seen
- Care during the pregnancy
- Planning the delivery
- After birth: thanatophoric dysplasia
- After birth: achondroplasia
- After birth: hypochondroplasia
- A drug treatment now exists
- What the referring physician needs to know
- What the referring physician needs to know
- Key points
- Key points
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition