Waardenburg syndrome with extended aganglionosis: report of 3 new cases

Journal of Pediatric Surgery

Volumn 44, Issue 6, 2009, Pages

  Karaca, Irfan ^a   Turk, Erdal ^a   Ortac, Ragip ^a   Kandirici, Aliye ^a  

^a DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

Author keywords

Extensive aganglionosis; Hirschsprung's disease; Waardenburg Shah syndrome; Ziegler operation

Indexed keywords

ARTICLE; CALORIC INTAKE; CASE REPORT; ENTEROSTOMY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; INFANT; INTESTINE OBSTRUCTION; MALE; MUSCLE RESECTION; PHYSICAL EXAMINATION; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; SEPSIS; TOTAL PARENTERAL NUTRITION; WAARDENBURG SYNDROME; WEIGHT GAIN;

FATAL OUTCOME; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; MALE; WAARDENBURG'S SYNDROME;

EID: 66649122819     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2009.02.057     Document Type: Article

References (25)

1. Waardenburg P.J. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 3 (1951) 195-253
2. Currie A.B.M., Haddad M., Honeyman M., et al. Associated developmental abnormalities of the anterior end of the neural crest: Hirschsprung's disease-Waardenburg's syndrome. J Pediatr Surg 21 (1986) 248-250
3. Shah K.N., Dalal S.J., Desai M.P., et al. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr 99 (1981) 432-435
4. Toki F., Suzuki N., Inoue K., et al. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Pediatr Surg Int 19 (2003) 725-728
5. McKusick V.A. Congenital deafness and Hirschsprung's disease. N Engl J Med 288 (1973) 691
6. Omenn G.S., and McKusick V.A. The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet 3 (1979) 217-223
7. Moore S.W., and Johnson A.G. Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. Semin Pediatr Surg 7 (1998) 156-161
8. Suita S., Taguchi T., Kamimura T., et al. Total colonic aganglionosis with or without small bowel involvement: a changing profile. J Pediatr Surg 32 (1997) 1537-1541
9. Ziegler M.M., Ross III A.J., and Bishop H.C. Total intestinal aganglionosis: a new technique for prolonged survival. J Pediatr Surg 22 (1987) 82-83
10. Ambani L.M. Waardenburg and Hirschsprung syndromes. J Pediatr 102 (1983) 802
11. Farndon P.A., and Bianchi A. Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child 58 (1983) 932-933
12. Ariturk E., Tosyali N., and Ariturk N. A case of Waardenburg syndrome and aganglionosis. Turk J Pediatr 34 (1992) 111-114
13. Bonnet J.P., Till M., Edery P., et al. Waardenburg-Hirschsprung disease in two sisters: a possible clue to the genetics of this association. Eur J Pediatr Surg 6 (1996) 245-248
14. Shim W.K., Derieg M., Powell B.R., et al. Near-total intestinal aganglionosis in the Waardenburg-Shah syndrome. J Pediatr Surg 34 (1999) 1853-1855
15. Gnananayagam E.J., Solomon R., Chandran A., et al. Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome. Pediatr Surg Int 19 (2003) 501-503
16. Sharif K., Beath S.V., Kelly D.A., et al. New perspective for the management of near-total or total intestinal aganglionosis in infants. J Pediatr Surg 38 (2003) 25-28 [discussion 25-28]
17. Jan I.A., Stroedter L., Haq A.U., et al. Association of Shah-Waardenburg syndrome: a review of 6 cases. J Pediatr Surg 43 (2008) 744-747
18. Hofstra R.M., Osinga J., Tan-Sindhunata G., et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 12 (1996) 445-447
19. Edery P., Attie T., Amiel J., et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12 (1996) 442-444
20. Inoue K., Tanabe Y., and Lupski J.R. Myelin deficiencies in both the central and peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 46 (1999) 313-318
21. Pingault V., Bandunard N., Kuhbroadt N., et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18 (1998) 171-173
22. Southard-Smith E.M., Anqrist M., Ellison J.S., et al. The Sox10 Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome. Genome Res 9 (1999) 215-225
23. Kimura K., Nishijima E., Muraji T., et al. Extensive aganglionosis: further experience with the colonic patch graft procedure and long-term results. J Pediatr Surg 23 (1988) 52-56
24. Wasa M., Takagi T., Sando K., et al. Intestinal adaptation in paediatric patients with shortbowel syndrome. Eur J Pediatr Surg 9 (1999) 207-209
25. Mian S.I., Dutta S., Le B., et al. Factors affecting survival to intestinal transplantation in the very young pediatric patient. Transplantation 85 (2008) 1287-1289