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

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...

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Détails bibliographiques
Publié dans:BMJ Case Rep
Auteurs principaux: Patil, Amogh, Prathyusha, Lanka, Patil, Muganagowda
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2017
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5780585/
https://ncbi.nlm.nih.gov/pubmed/29275389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-222313
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