Williams syndrome

Case contributed by Elton John Dullas Decena
Diagnosis almost certain


Alert, active, pink, well-perfused, afebrile, no respiratory distress. Williams syndrome dysmorphic features.

Patient Data

Age: 2 years
Gender: Female

Both lungs are clear. No consolidation or infiltrates. Magnified cardiomediastinal silhouette. Hilar shadows and both hemidiaphragm are within normal limits. Both costophrenic angles are clear. Visualized bones appear unremarkable.


Procedure was done without intubation to avoid possible complication.

Some respiratory artefact due to spontaneous respiration.

  • small pulmonary arteries from the origin to the distal part
  • normal PV and MPA
  • mild aortic supravalvar stenosis
  • hypoplastic left arch with severe coarctation
  • large ductus which connects to the DAO
  • no collaterals are seen from the DAO
  • others
    • normal coronaries
    • normal pulmonary veins
    • normal IVC and SVC
    • extracardiac findings were not evaluated

Special thanks to:

  • Dr Ajay Prashant Dsouza (Consultant and Head of Radiology)
  • Dr Muhammad Anwar (Consultant Radiologist)
  • Dr Elham El Gably (Consultant Radiologist)
  • Jukha Shater Ali Al Badawi (Radiology Manager)
  • Dr Mohamed Sulaiman (Consultant Pediatric Cardiologist)

Cardiology Team

CT Team - Al Jalila Children's Specialty Hospital, Dubai, UAE.

Case Discussion

Cardiology team recommendations:

Coarctation dilation with stenting and a trial of PA ballooning just to reduce the severity of CoA and its complications and probably to improve the blood flow to the pulmonary arteries and then growth of the PAs.

Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome 7 at the time of conception. The deletion can occur in either the egg or the sperm. The elastin gene is one of the key affected genes. In most families, the child with Williams syndrome is the only one to have the condition in his or her extended family.

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