title: Waardenburg syndrome presenting with constipation since birth.
abstract: BACKGROUND
  Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung's disease.
  
  
  METHODS
  A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction.
  
  
  METHODS
  Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed.
  
  
  RESULTS
  Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis.
  
  
  CONCLUSIONS
  Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.
authors.affiliation: Departments of Pediatric Surgery, NIMS Medical College, and *SMS Medical College; Jaipur, Rajasthan, India. Correspondence to: Dr Rahul Gupta, 202 A, A3 block, Kamal Apartment- 2,Banipark, Jaipur, Rajasthan, India. meetsurgeon007@yahoo.co.in.
authors.forename: R
authors.initials: R
authors.lastname: Gupta
authors.forename: S B
authors.initials: SB
authors.lastname: Sharma
authors.forename: P
authors.initials: P
authors.lastname: Mathur
authors.forename: L D
authors.initials: LD
authors.lastname: Agrawal
mesh_terms: D003106:Colon / Q000002:abnormalities* / Q000473:pathology; D003248:Constipation / Q000175:diagnosis* / Q000473:pathology; D017809:Fatal Outcome; D006627:Hirschsprung Disease; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D014849:Waardenburg Syndrome / Q000175:diagnosis* / Q000473:pathology