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A Case of William's Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting.

Massimo MapelliPaola ZagniValeria CalbiAliku TwalibRoberto FerraraPiergiuseppe Agostoni
Published in: Children (Basel, Switzerland) (2021)
We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.
Keyphrases
  • heart failure
  • left ventricular
  • rheumatoid arthritis
  • magnetic resonance
  • mental health
  • genome wide
  • case report
  • atrial fibrillation
  • dna methylation
  • computed tomography
  • diffusion weighted imaging
  • contrast enhanced