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Radiology
Hypophosphatasia
Built from Obstetric Imaging
What’s inside
5 sections · 36 slides
Overview
- What this deck covers
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
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
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
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