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Rare disease
CASE REPORT
Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child

Summary

We present the case of a 45-day-old child with the chief complaint of failure to pass stools for 10 days. After initial investigation, the patient was found to have Hirschsprung’s disease. However, with further examination and analysis, the extremely rare diagnosis of type 4 Waardenburg syndrome was made (also known as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung’s disease).

  • paediatrics
  • congenital disorders

https://doi.org/10.1136/bcr-2017-222313

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