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Radiology

Noonan Syndrome

Built from Obstetric Imaging

The first 25 slides of Noonan Syndrome
The first 25 slides, exactly as they appear. The full deck has 61 content slides.

What’s inside

5 sections · 61 slides

  1. 01

    Overview

    • What this topic covers

    1 slide

  2. 02

    The disorder

    What it is, how common it is, and why it happens

    • Definition of Noonan syndrome
    • Hallmark features
    • 50-80%
    • 1:1000
    • Pattern of inheritance
    • Genetic heterogeneity
    • Genes identified and how often
    • Additional pathogenic variants
    • The RAS/RAF/MEK/ERK signalling pathway
    • Etiology and pathophysiology

    10 slides

  3. 03

    Clinical features

    The heart, the face, the skeleton and everything else

    • No formal diagnostic criteria
    • Cardiovascular defects
    • Narrowed aortic root in coarctation of the aorta
    • Coarctation of the aorta
    • Pulmonary valve stenosis
    • Growth and development
    • Skeletal features
    • Facial dysmorphism
    • Fetal face on three-dimensional ultrasound
    • Mouth and jaw features
    • Neck and chest wall abnormalities
    • Lymphedema and fluid collections
    • Pleural effusion in the fetal chest
    • Pleural effusion and facial dysmorphism together
    • Ocular findings
    • Ear, nose and throat involvement
    • Skin, hair and bleeding tendency
    • Genitourinary features
    • Malignancy, pain and psychiatric disease

    19 slides

  4. 04

    Imaging before birth

    What ultrasound shows, and what it cannot predict

    • First-trimester ultrasound findings
    • Nuchal translucency measured on a first-trimester profile
    • Cystic hygroma on the fetal scan
    • Multiloculated fluid-filled neck mass on ultrasound
    • Findings later in gestation
    • 75%
    • Limitations of prenatal sonography
    • Fetal echocardiography
    • Cardiac anomalies in order of frequency
    • Classic signs
    • Interpreting a cystic hygroma
    • Differential diagnosis from imaging findings
    • Distinguishing the look-alike disorders

    13 slides

  5. 05

    Management

    Before birth, after birth, and for the rest of life

    • Route from an abnormal scan to a diagnosis
    • Prenatal surveillance
    • Prenatal genetic testing options
    • Postnatal surveillance
    • Cardiac and haematological follow-up schedule
    • Malignancy surveillance
    • Treatment of the individual defects
    • Early intervention for delay
    • Pregnancy in a woman with Noonan syndrome
    • What the referring physician needs to know
    • Key points
    • References
    • References (continued)
    • References (continued)
    • References (continued)
    • References (continued)
    • Suggested readings
    • Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition

    18 slides