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Radiology
Spondyloepiphyseal Dysplasia Congenita
Built from Obstetric Imaging
What’s inside
6 sections · 46 slides
Overview
- What this covers
Naming the disease
Break the word apart before anything else
- Breaking the name apart
- A short trunk, not short arms
- Three ways this family of disorders shows up
- The definition in one slide
- How common is it?
Gene, protein, and what goes wrong
One faulty rope explains almost every finding
- How it is passed on
- Where type II collagen lives
- Collagen is built like a rope
- Cartilage under the microscope
- From gene to baby
- The rest of the family
What the child looks like
Spine, chest, hips, face, eyes and ears
- The neck is the danger zone
- How the spine changes with time
- A severely curved spine on x-ray
- Severe sideways curvature of the spine
- The chest and the hips
- Joints wear out early
- Face and palate
- Eyes and ears
- 1–1.4 m
Seeing it on the scan
The findings are absences: bone that has not arrived yet
- Why late ossification is the key sign
- The long bones
- The spine on ultrasound
- Flattened vertebral bodies on ultrasound
- Vertebral bodies compared with a normal fetus
- Reading that comparison
- The face on ultrasound
- Reading the chest
- Sternal ossification centres compared with a normal fetus
- A foot turned inward
- Infant foot in the clubfoot position
- What stays normal, and why that helps
- Other imaging, and the final answer
- Classic signs
- What else could it be?
Delivery, and the years after
Usually a normal plan, with one airway exception
- Planning the delivery
- The newborn
- What the referring doctor needs to know
- One gene, many clinics
- Key points
- Revision in six lines
- References
- References (continued)
- Further reading
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition