Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

Congenital Anomalies

Volumn 51, Issue 2, 2011, Pages 87-91

  Solomon, Benjamin D ^a   Raam, Manu S ^a,b   Pineda Alvarez, Daniel E ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Genitourinary anomalies; VACTERL; VACTERL association; VATER; VATER association

Indexed keywords

ANUS ATRESIA; ARTICLE; CRYPTORCHISM; DISEASE ASSOCIATION; FEMALE; HEART DISEASE; HUMAN; HYDROCELE; HYPOSPADIAS; INFORMATION PROCESSING; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MALE; MICROPENIS; PRIORITY JOURNAL; TRACHEOESOPHAGEAL FISTULA; UROGENITAL TRACT MALFORMATION; UTERUS DIDELPHYS; VERTEBRA MALFORMATION;

ANAL CANAL; ESOPHAGUS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; SPINE; TRACHEA; UROGENITAL ABNORMALITIES;

FISTULA;

EID: 79956209460     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2010.00303.x     Document Type: Article

References (24)

1. Aguinaga M, Zenteno JC, Pérez-Cano H, Morán V (2010) Sonic hedgehog mutation analysis in patients with VACTERL association. Am J Med Genet A 152A: 781-783.
2. Botto LD, Khoury MJ, Mastroiacovo P etal. (1997) The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 71: 8-15.
3. Brown AK, Roddam AW, Spitz L, Ward SJ (1999) Oesophageal atresia, related malformations, and medical problems: a family study. Am J Med Genet 85: 31-37.
4. Czeizel A, Ludányi I (1985) An aetiological study of the VACTERL- association. Eur J Pediatr 144: 331-337.
5. de Jong EM, Felix JF, Deurloo JA etal. (2008) Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula with full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol 82: 92-97.
6. Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC (1979) The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 95: 399-402.
7. Garcia-Barceló MM, Wong KK, Lui VC etal. (2008) Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet A 146A: 3181-3185.
8. Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B (2001) VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet 101: 26-32.
9. Kim PC, Mo R, Hui Cc C (2001) Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. J Pediatr Surg 36: 381-384.
10. Kluth D, Hillen M, Lambrecht W (1995) The principles of normal and abnormal hindgut development. J Pediatr Surg 30: 1143-1147.
11. Lau ST, Caty MG (2006) Hindgut abnormalities. Surg Clin North Am 86: 301-316.
12. Lin C, Yin Y, Veith GM, Fisher AV, Long F, Ma L (2009) Temporal and spatial dissection of Shh signaling in genital tubercle development. Development 136: 3959-3967.
13. Nievelstein RAJ, van der Werff JFA, Verbeek FJ, Valk J, Vermeij-Keers C (1998) Normal and abnormal embryonic development of the anorectum in human embryos. Teratology 57: 70-78.
14. Paidas CN, Morreale RF, Holoski KM, Lund RE, Hutchins GM (1999) Septation and differentiation of the embryonic human cloaca. J Pediatr Surg 34: 877-884.
15. Parkin CA, Ingham PW (2008) The adventures of Sonic Hedgehog in development and repair. I. Hedgehog signaling in gastrointestinal development and disease. Am J Physiol Gastrointest Liver Physiol 294: G363-G367.
16. Qi BQ, Beasley SW, Williams AK, Frizelle F (2000) Does the urorectal septum fuse with the cloacal membrane? J Urol 164: 2070-2072.
17. Quan L, Smith DW (1973) The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr 82: 104-107.
18. Rich MA, Brock WA, Peña A (1988) Spectrum of genitourinary malformations in patients with imperforate anus. Pediatr Surg Int 3: 110-113.
19. Rittler M, Paz JE, Castilla EE (1996) VACTERL association, epidemiologic definition and delineation. Am J Med Genet 63: 529-536.
20. Shaw-Smith C (2006) Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 43: 545-554.
21. Solomon BD, Pineda-Alvarez DE, Raam MS, Cummings DAT (2010) Evidence for inheritance in patients with VACTERL association. Hum Genet 127: 731-733.
22. Stoll C, Alembik Y, Dott B, Roth MP (2007) Associated malformations in patients with anorectal anomalies. Eur J Med Genet 50: 281-290.
23. Tüzel E, Samli H, Kuru I etal. (2007) Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. Urology 70: 161-164.
24. Weaver DD, Mapstone CL, Yu PL (1986) The VATER association. Analysis of 46 patients. Am J Dis Child 140: 225-229.