title: Shah-Waardenburg syndrome.
abstract: Shah-Waardenburg syndrome (SWS) is a neurocristopathy and is characterized by Hirschsprung's disease (HD), deafness, and depigmentation of hairs, skin, and iris. Is a very rare congenital disorder with variable clinical expression. This report describes a 4-day-old male newborn with Waardenburg's syndrome associated with aganglionosis of the colon and terminal ileum, and review the relevant literature for draws attention to the causal relationship between these two entities.
authors.affiliation: Department of Pediatric Surgery, University Hospital Hassan II, Fez, Morocco.
authors.forename: Abdelhalim
authors.initials: A
authors.lastname: Mahmoudi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Rami
authors.forename: Khalid
authors.initials: K
authors.lastname: Khattala
authors.forename: Aziz
authors.initials: A
authors.lastname: Elmadi
authors.forename: My Abderrahmane
authors.initials: MA
authors.lastname: Afifi
authors.forename: Bouabdallah
authors.initials: B
authors.lastname: Youssef
mesh_terms: D016232:Endothelins / Q000502:physiology; D017809:Fatal Outcome; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010859:Pigmentation Disorders / Q000175:diagnosis*; D014849:Waardenburg Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D016232:Endothelins
keywords: Hirschsprung's disease; Intestinal aganglionosis; Waardenburg-Shah syndrome; neurocristopathy
references.citation: Indian Pediatr. 2006 May;43(5):452
references.pmid: 16735772
references.citation: Pediatr Surg Int. 2003 Dec;19(11):725-8
references.pmid: 14691634
references.citation: Turk J Pediatr. 1992 Apr-Jun;34(2):111-4
references.pmid: 1440950
references.citation: Semin Pediatr Surg. 1998 Aug;7(3):156-61
references.pmid: 9718653
references.citation: N Engl J Med. 1973 Mar 29;288(13):691
references.pmid: 4687269
references.citation: J Pediatr Surg. 2008 Apr;43(4):744-7
references.pmid: 18405726
references.citation: J Pediatr. 1981 Sep;99(3):432-5
references.pmid: 7264803
references.citation: Arch Dis Child. 1983 Nov;58(11):932-3
references.pmid: 6651333
references.citation: Transplantation. 2008 May 15;85(9):1287-9
references.pmid: 18475185
references.citation: Pediatrics. 1979 May;63(5):803-5
references.pmid: 440906
references.citation: Eur J Pediatr Surg. 1999 Aug;9(4):207-9
references.pmid: 10532258
references.citation: Eur J Paediatr Neurol. 2006 Jan;10(1):11-7
references.pmid: 16504559
references.citation: J Cell Biochem. 2003 Oct 15;90(3):573-85
references.pmid: 14523991
references.citation: Pediatr Surg Int. 2003 Aug;19(6):501-3
references.pmid: 12811477
references.citation: Clin Genet. 1980 Jul;18(1):91-2
references.pmid: 7418259