Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association

Journal of Pediatric Surgery

Volumn 42, Issue 8, 2007, Pages 1454-1456

  Sinha, Chandrasen K ^a   Grewal, Alka ^a   Ward, Harry Charles ^a  

^a ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

Anal atresia anorectal malformation; Cat eye syndrome; Hirschsprung's disease

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; CASE REPORT; CAT EYE SYNDROME; CHILD; CHROMOSOME 22; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; CLINICAL FEATURE; DISEASE ASSOCIATION; FOLLOW UP; GASTROESOPHAGEAL REFLUX; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LAPAROTOMY; MALE; PRIORITY JOURNAL; RECTUM BIOPSY; STOMA; SURGICAL APPROACH; TISSUE SECTION;

ABNORMALITIES, MULTIPLE; ANAL CANAL; EYE DISEASES; HIRSCHSPRUNG DISEASE; HUMANS; INFANT, NEWBORN; MALE; RECTUM;

EID: 34547765486     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.03.059     Document Type: Article

References (14)

1. Jimenez-Urueta P.S., Alvarado-Gracia R., and Gallego-Grijava J.E. Colon aganglionosis in patients with anorectal malformation. Analysis of five cases. Cir Cir 73 4 (2005) 283-285
2. Watanatittan S., Suwatanaviroj A., Limprutithum T., et al. Association of Hirschsprung's disease and anorectal malformation. J Pediatr Surg 26 2 (1991) 192-195
3. Mahboubi S., and Templeton Jr. J.M. Association of Hirschsprung's disease and imperforate anus in a patient with "Cat-eye" syndrome. A report of one case and review of the literature. Pediatr Radiol 14 6 (1984) 441-442
4. Ward J., Sierra I.A., and D'Croz E. Cat eye syndrome associated with aganglionosis of the small and large intestine. J Med Genet 26 10 (1989) 647-648
5. Jeong-Hyun K., Kyong-Oh Y., Hyungtae K., et al. New variations of the EDNRB gene and its association with sporadic Hirschsprung's disease in Korea. J Pediatr Surg 41 (2006) 1708-1712
6. Wen-Chau C., Shen-Shun C., Edgar D.S., et al. A de novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung's disease. J Formos Med Assoc 105 4 (2006) 349-354
7. Attie T., Pelet A., Ederly P., et al. Diversity of RET proto-oncogene mutation in familial and sporadic Hirschsprung's disease. Hum Mol Gent 4 (1995) 1381-1386
8. Chakravarti A. Endothelin receptor-mediated signalling in Hirschsprung's disease. Hum Mol Genet 5 (1996) 303-307
9. Marucciello G., Ceccherini I., Lerone M., et al. Pathogenesis of Hirschsprung's disease. J Pediatr Surg 35 7 (2000) 1017-1025
10. Ginerva G. The aetiology of the cat eye syndrome reconsidered. J Med Genet 18 (1981) 108-118
11. Denavit T.M., Malan V., Grillon C., et al. A new case of a severe clinical phenotype of the cat-eye syndrome. Genet Couns 15 4 (2004) 443-448
12. Rosias P.R., Sijstermans J.M., Theunissen P.M., et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 12 3 (2001) 273-282
13. Kerstjens-Frederikse W.S., Hofstra R.M.W., van Essen A.J., et al. A Hirschsprung's disease locus at 22q11?. J Med Genet 36 (1999) 221-224
14. Budarf M.L., Konkle B.A., Ludlow L.B., et al. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 4 (1995) 763-766