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Radiology

Diastrophic Dysplasia Sulfate Transporter (DTDST) (Including AOII and Achondrogenesis IB)

Built from Obstetric Imaging

What’s inside

6 sections · 47 slides

  1. 01

    Overview

    • What you will learn here

    1 slide

  2. 02

    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

    8 slides

  3. 03

    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

    9 slides

  4. 04

    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

    6 slides

  5. 05

    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

    12 slides

  6. 06

    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

    11 slides