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The first 25 slides, exactly as they appear. The full deck has 47 content slides.
Radiology
Diastrophic Dysplasia Sulfate Transporter (DTDST) (Including AOII and Achondrogenesis IB)
Built from Obstetric Imaging
What’s inside
6 sections · 47 slides
Overview
- What you will learn here
What this condition is
A twisted, short-limbed skeleton from a single recessive gene
- Start with the word: a skeletal dysplasia
- Diastrophic dysplasia in one look
- Why it is called diastrophic
- Why it matters in the newborn period
- How the diagnosis is usually reached
- From scan suspicion to a firm answer
- 1:100,000
- Reading those numbers carefully
One gene, a whole spectrum
SLC26A2 and the sulfate that cartilage cannot do without
- The gene behind it
- What the protein actually does
- From gene fault to twisted bones
- Passed on the recessive way
- Which faults are found, and how often
- Why some children are far worse affected
- The severity ladder of one gene
- The family of SLC26A2 disorders
- One dominant exception
What the child looks like
Hands, ears, palate, spine and feet
- The thumb that gives it away
- The rest of the skeleton
- Beyond the bones
- Life beyond infancy
- The signs that travel together
- Reading that list
What imaging shows
Prenatal ultrasound, then the newborn x-ray that settles it
- Why the scan is difficult
- The four scan clues to look for
- Shortened bowed thigh bone on scan
- The bent spine on scan
- Hitchhiker thumb seen before birth
- What to notice in that thumb view
- Adding a third dimension
- Where MRI stands
- The newborn x-ray settles it
- Newborn hand x-ray in this disorder
- Newborn foot x-ray in this disorder
- What else could this be
Counselling and care
Before birth, at delivery, and in the years that follow
- Before birth: what can and cannot be done
- Planning the delivery
- After birth: surgery and therapy
- A treatment idea still in the laboratory
- What the referring physician needs to know
- Why confirming the gene is worth it
- Take these away
- And these
- References
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition