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Waardenburg syndrome presenting with constipation since birth

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Abstract

Background

Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung’s disease.

Case characteristics

A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction.

Observation

Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed.

Outcome

Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis.

Message

Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.

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References

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Author information

Authors and Affiliations

  1. Departments of Pediatric Surgery, NIMS Medical College, 202 A, A3 block, Kamal Apartment- 2,Banipark, Jaipur, Rajasthan, India

    Rahul Gupta & S. B. Sharma

  2. Departments of Pediatric Surgery, Jaipur, Rajasthan, India

    P. Mathur & L. D. Agrawal

Authors
  1. Rahul Gupta
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  2. S. B. Sharma
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  3. P. Mathur
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  4. L. D. Agrawal
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Corresponding author

Correspondence to Rahul Gupta.

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Gupta, R., Sharma, S.B., Mathur, P. et al. Waardenburg syndrome presenting with constipation since birth. Indian Pediatr 51, 1013–1014 (2014). https://doi.org/10.1007/s13312-014-0549-y

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  • DOI: https://doi.org/10.1007/s13312-014-0549-y

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