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Radiology

Hypophosphatasia

Built from Obstetric Imaging

The first 25 slides of Hypophosphatasia
The first 25 slides, exactly as they appear. The full deck has 36 content slides.

What’s inside

5 sections · 36 slides

  1. 01

    Overview

    • What this deck covers

    1 slide

  2. 02

    What the disease is

    One missing enzyme, and bone stops setting

    • Bone that never hardens
    • From one faulty gene to a baby who cannot breathe
    • The enzyme that lets bone set
    • Four main forms, named by when symptoms start
    • The two earliest forms
    • The later, milder forms
    • How it is passed on
    • 1:100,000

    8 slides

  3. 03

    What the scan shows

    The prenatal ultrasound signs, one by one

    • When to suspect it on a scan
    • Where to look first: skull, ribs, spine
    • Poorly mineralized skull dome at 22 weeks
    • The fetal hand is the easiest clue
    • Short, thin, bowed long bones
    • Cupped metaphysis with a dark gap
    • Bony spurs and the Bowdler spur
    • Bowdler spur breaking through the skin
    • Two more findings worth knowing
    • The classic signs, gathered in one place

    10 slides

  4. 04

    Confirming the diagnosis

    Blood, genes, and the x-ray taken after delivery

    • The baby who is born with it
    • Other problems in the newborn
    • How the diagnosis is proved
    • What the x-ray after delivery shows
    • Newborn radiograph of an undermineralized skeleton
    • Three conditions that look alike

    6 slides

  5. 05

    Care before and after birth

    Counsel, plan the delivery, decide about treatment

    • What to do when the scan suggests HPP
    • Planning the birth
    • Confirming it after delivery
    • Two paths after birth
    • Enzyme replacement changes the outlook
    • What the referring doctor needs to know
    • Key points
    • References
    • References (continued)
    • References (continued)
    • Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition

    11 slides