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Radiology
Chondrodysplasia Punctata
Built from Obstetric Imaging
What’s inside
7 sections · 58 slides
Overview
- What you will learn
What the disorder is
Cartilage that calcifies in dots, before it should
- Start with the cartilage
- The name says what you see
- 1 in 100,000
- What the whole group has in common
- One name, many diseases
The named types
Six recognised forms, each with its own gene and its own risk
- The six recognised forms
- Two words worth knowing first
- The rhizomelic form
- A peroxisome inside a cell
- Three genes, one appearance
- Reading the rhizomelic gene list
- Conradi-Hunermann syndrome
- The brachytelephalangic form
- Greenberg dysplasia
- Fetal radiograph in Greenberg dysplasia
- What to notice on that radiograph
- The two dominant forms
- Why the dominant forms stand apart
What the child looks like
The features that go with each form, from severe to mild
- Rhizomelic form: the head and face
- Rhizomelic form: body, bones and brain
- Severity is a spectrum, not a switch
- Cloudy lens of a congenital cataract
- Conradi-Hunermann: what to look for
- Calcific stippling in the fetal humerus
- What to notice in that humerus
- Flattened fetal profile with small upturned nose
- What to notice in that profile
- Brachytelephalangic: what to look for
- Greenberg dysplasia: a distinct picture
Imaging the fetus
Where the stippling hides, and when in pregnancy it appears
- Ultrasound is the front-line test
- Short humerus with stippling on ultrasound
- What to notice in that arm
- The rest of the checklist
- Fetal limbs on a second-trimester anomaly scan
- Ask about the family before you scan
- Three- and four-dimensional ultrasound
- Where MRI earns its place
- “
- Unpacking the classic sign
What else looks like this
Not every stippled fetus has a genetic bone dysplasia
- Stippling is not automatically CDXP
- Warfarin in early pregnancy
- Maternal lupus affecting the fetus
- Zellweger syndrome
- Sorting the look-alikes
Counselling and care
What can be offered before birth, and what happens after
- From a suspicious scan to a plan
- What can be offered before birth
- Two extra questions for the mother
- Care after birth
- Two very different outlooks
- What the referring physician needs to know
- Getting the subtype early pays off
- Key points
- References
- References (continued)
- References (continued)
- Suggested readings
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition