CHARGE syndrome: systemic features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

CHARGE syndrome: systemic features. Tetrology of Fallot, Patent ductus arteriosus (PDA). Fully referenced neurology checklist.

Cardiac abnormalities

  • Tetrology of Fallot
  • Patent ductus arteriosus (PDA)
  • Double outlet right ventricle
  • Ventricular septal defect VSD)
  • Atrial septal defect (ASD)
  • Atrioventricular canal defects
  • Aortic arch anomalies

Genitourinary abnormalities

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Skeletal features

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Differential diagnosis

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Synonym

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References

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References

  1. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1:34.
  2. Dodé C, Hardelin JP. Kallmann syndrome. Eur J Hum Genet 2009; 17:139-146.

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