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Radiology

Noonan Syndrome

Built from Obstetric Imaging

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