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The first 25 slides, exactly as they appear. The full deck has 42 content slides.
Radiology
Roberts Syndrome
Built from Obstetric Imaging
What’s inside
6 sections · 42 slides
Overview
- Roberts syndrome in one slide
- Core features of Roberts syndrome
Recognising the syndrome
The names it goes by, the diagnostic criteria, and the malformations of the limbs and face
- Other names for Roberts syndrome
- Clinical criteria for the diagnosis
- Upper versus lower limb involvement
- Limb reduction defects
- Malformations of the hands and joints
- Watching the fetal fingers move
- Soft tissue syndactyly of the fourth and fifth fingers
- Craniofacial abnormalities: mouth and jaw
- Craniofacial abnormalities: eyes and nose
Cause and mechanism
One gene, one lost enzyme activity, and chromosomes that let go of each other too early
- Prevalence and epidemiology
- The ESCO2 gene
- Autosomal recessive inheritance
- Normal role of the ESCO2 protein
- From gene mutation to birth defects
- Premature centromere separation
- Demonstrating premature centromere separation
- Metaphase chromosome spread under the microscope
- Reading the C-banded chromosome spread
- C-banded chromosomes with premature centromere separation
Diagnosis and imaging
Ultrasound raises the suspicion; cytogenetics settles it
- When to suspect Roberts syndrome before birth
- A negative cytogenetic result does not exclude the diagnosis
- Prenatal diagnostic pathway
- Ultrasound assessment
- Fetal hands and limbs on the anomaly scan
- Examining the fetal hand
- Other applicable imaging modalities
Differential diagnosis
Which look-alike conditions to consider depends on how severe the malformations are
- Differential diagnosis grouped by severity
- Look-alikes with mild malformations, and cytogenetic mimics
- Look-alikes with severe malformations
Management and outcome
Counselling and testing before birth, tailored reconstruction afterwards
- Prenatal management
- Chorionic villi under the microscope
- Decisions once the diagnosis is made
- Postnatal treatment options
- Prognosis and outcome
- What the referring physician needs to know
- Key points
- Suggested readings
- References
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition