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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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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Patil, Amogh, Prathyusha, Lanka, Patil, Muganagowda
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Acesso em linha: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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