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Radiology

Radial Ray Deficiency (Limb Deficiency)

Built from Obstetric Imaging

What’s inside

5 sections · 52 slides

  1. 01

    Overview

    • What this topic covers

    1 slide

  2. 02

    What a radial ray defect is

    Start with the bone, then widen out to the whole thumb side of the limb.

    • The thumb side of the arm
    • What the defect actually is
    • Why one scan finding is a hard problem
    • 2:10,000
    • Reading those numbers
    • One arm, or both?

    6 slides

  3. 03

    Why it happens

    Normal limb building, then the four ways it goes wrong.

    • How a normal radius is built
    • Four routes to the same finding
    • Chromosome causes
    • Drugs and exposures
    • Two syndromes to learn first
    • Holt-Oram syndrome
    • Cornelia de Lange syndrome genetics
    • Family history is a diagnostic test
    • A long list, used as a checklist
    • Disorders That Include Radial Ray Defects
    • Disorders That Include Radial Ray Defects (continued)
    • Disorders That Include Radial Ray Defects (continued)
    • The book's printed list of associated disorders
    • VATER / VACTERL, unpacked

    14 slides

  4. 04

    What you see on the scan

    Ultrasound technique, the shapes the radius takes, and the clues elsewhere.

    • The scanning rule
    • Shapes the radius takes on ultrasound
    • Then look at the hand
    • Search the rest of the fetus
    • Why the other findings matter
    • Always look at the heart
    • Cornelia de Lange on ultrasound
    • Fetal profile with a small chin
    • Three-dimensional face of a 24-week fetus
    • Three-dimensional view of a fetal arm
    • Two syndromes side by side
    • What about MRI and CT?
    • Films after birth are mandatory
    • Radiograph of a forearm with no radial ray
    • Radiograph of both forearms and hands
    • “
    • Narrowing the differential

    17 slides

  5. 05

    What to do about it

    Tests to offer before birth, delivery planning, and care after birth.

    • The prenatal pathway
    • Step one: the history
    • Testing for chromosome problems
    • Testing for single genes
    • The conversation with the parents
    • After birth: the first hours
    • After birth: finding the cause
    • Living with an isolated defect
    • What the referring physician needs to know
    • Key points
    • References
    • References (continued)
    • Further reading
    • Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition

    14 slides