Shah-Waardenburg syndrome: a case highlighting the importance of a holistic approach to assessing a child.
BMJ Case Rep
; 20172017 Dec 22.
Article
em En
| MEDLINE
| ID: mdl-29275389
ABSTRACT
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).
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Waardenburg
/
Doença de Hirschsprung
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Reino Unido