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Radiology

Roberts Syndrome

Built from Obstetric Imaging

What’s inside

6 sections · 42 slides

  1. 01

    Overview

    • Roberts syndrome in one slide
    • Core features of Roberts syndrome

    2 slides

  2. 02

    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

    9 slides

  3. 03

    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

    10 slides

  4. 04

    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

    7 slides

  5. 05

    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

    3 slides

  6. 06

    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

    11 slides