Environmental Factors

3.5.1 The Effect of Drugs in Pregnancy

Although there is very little objective evidence of drugs in the pathogenesis of ARM, Stoll et al. [23] suggested from their relatively small sample that mothers of children with congenital anal atresia took drugs more often during pregnancy than did controls. Previous reports have implicated thalidomide [161] and tridione as possible aetiological agents [2]. More recently, Bonnot et al. [175] have reported 6 cases of anal atresia out of 262 congenital malformations identified in 13,703 patients exposed to benzodiaz-epines during pregnancy. They then demonstrated a significant association (p = 0.01) between lorazepam and anal atresia (five out of six patients)

3.5.2 Associations with Toxins

The known associations with toxins have been used to develop animal models as well as indicate possible involved pathways. The adriamycin-exposed animal model is well established [103] and ETU toxicity is the basis of a current animal model of ARM [104].

Retinoic acid is thought to be involved in the development of patterns in the developing embryo. Teratogenic doses of retinoic acid results in truncation of the embryonic body axis in the mouse, which corresponds to caudal regression syndrome as described in humans [146]. All-transretinoic acid has been used as an animal model of high ARM with fistula, suggesting that it interferes with the normal caudal migration along the urogenital system posterior wall [176].

In a further study on the effects of retinoic acid in the developing foetus, 100% of offspring had craniofacial anomalies, 94% anorectal, 90% limb and 55% neural tube defects [177]. Etretinate (which targets the tail bud) produces a mouse model of Currarino syndrome [178]. Although it is not clear at this stage whether this is a toxic effect or has to do with blocking of receptors during normal development, this association appears to indicate that (retinoic acid and other drug) teratogenesis affects the neural crest developmental pathway. Retinoic acid is of particular interest as it appears to inhibit Shh signalling and downstream bone morphogenetic protein 4 synthesis [179].

An association with thalidomide [161] has been reported, which reopens the possibility of a vascular component to the aetiology, because of its recently discovered anti-angiogenic properties. This raises the possibility of a genetically based vascular hypothesis for ARM, which may combine the two hypotheses.

3.5.3 Association with Infectious Agents

Associations with infectious agents remain uncommon, but foetal exposure to cytomegalovirus and toxoplasmosis have been reported as possible aetio-logical factors [29].

3.5.4 Environmental Exposure and ARM

The results of epidemiological studies are inconsistent as far as environmental exposure is concerned, but only weak potential associations with risk factors have been identified. The adverse effects of smoking, previous abortions and cycle disorders before pregnancy could not be established [180].

Stoll et al. [23] suggested that in their relatively small sample, fathers of ARM babies were more exposed to hazardous substances than fathers of controls. Other environmental factors such as exposure to electromagnetic radiation have proved to be difficult to determine from an epidemiological point of view.

3.5.5 Environmental Versus Genetic

Factors - Increased Susceptibility to Environmental Factors

Epidemiologic techniques are not infrequently used to study risk factors and interactions between gene susceptibility and environmental factors. The role of environmental factors in the development of ARM is probably small. Events during pregnancy or parental exposure (maternal or paternal) could theoretically be of significance and further research is clearly warranted. A clear distinction between environmental and genetic factors is not necessarily justified, as demonstrated in the concept of ecogenetics [181].

Although a considerable spectrum of anorectal maldevelopment has been shown to result from the toxic effects of ETU administration to timed-pregnant rats [104], another study demonstrated that discordance among twin animals suggested that te-ratogens could be eliminated as a major aetiological factor [182].

References

1. Cuschieri A (2001) Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet 103:207-215

2. Boocock GR, Donnai D (1987) Anorectal malformations: familial aspects and associated anomalies. Arch Dis Child 62:576-579

3. Stephens FD (1970) Embryologic and functional aspects of "imperforate anus". Surg Clin North Am 50:919-927

4. Kluth D, Hillen M, Lambrecht W (1995) The principles of normal and abnormal hindgut development. J Pediatr Surg 30:1143-1147

5. N'Guessan G, Stephens FD (1986) Covered anus with an-ocutaneous fistula: the muscular sphincters. J Pediatr Surg 21:33-35

6. Cho S, Moore SP, Fangman T (2001) One hundred three consecutive patients with anorectal malformations and their associated anomalies. Arch Pediatr Adolesc Med 155:587-591

7. Smith ED (1988) Incidence, frequency of types, and etiology of anorectal malformations. Birth Defects Orig Artic Ser 24:231-246

8. Bradham RR (1958) Imperforate anus; report of 130 cases. Surgery 44:578-584

9. Crowell EA, Dulin JW (1940) Congenital anomalies of the anus and rectum. Surgery 529-539

10. Ivy RH (1957) Congenital anomalies; as recorded on birth certificates in the Division of Vital Statistics of the Pennsylvania Department of Health, for the period 1951-1955, inclusive. Plast Reconstr Surg 20:400-411

11. Keith A (1908) Three demonstrations on malformations of the hind end of the body. Br Med J , 1736-1741

12. Ladd WE, Gross RE (1934) Congenital malformations of the anus and two: report of 162 cases. Am J Surg 23:167-183

13. Louw JH (1959) Malformations of the anus and rectum: a report on 85 consecutive cases. S Afr Med J 33:874-881

14. Malpas P (1937) The incidence of human malformations and the significance of changes in the maternal environment in the causation. J Obstet Gynaecol Br Commw 44:434-454

15. Moore TC, Lawrence EA (1952) Congenital malformations of the rectum and anus. II. Associated anomalies encountered in a series of 120 cases. Surg Gynecol Obstet 95:281-288

16. Nazer J, Hubner ME, Valenzuela P, Cifuentes L (2000) Anorectal congenital malformations and their preferential associations. Experience of the Clinical Hospital of the University of Chile. Period 1979-1999. Rev Med Chil 128:519-525

17. Niedzielski J (2000) Incidence of anorectal malformations in Lodz province. Med Sci Monit 6:133-136

18. Nixon HH (1972) Anorectal anomalies: with an international proposed classification. Postgrad Med J 48:465-470

19. Schuler L, Salzano FM (1994) Patterns in multimalformed babies and the question of the relationship between sire-nomelia and VACTERL. Am J Med Genet 49:29-35

20. Sipek A, Gregor V, Horacek J, Masatova D (2004) Survival of children born with selected types of birth defects in Czech Republic. Ceska Gynekol 69(Suppl 1) :47-52

21. Smith ED (1988) Incidence frequency of types and etiology of anorectal malformations. In Smith ED, Stephens FD (eds) Anorectal Malformations in Children, Update 1988 edn. March of Dimes Birth Defects Foundation and Alan R. Liss, New York, pp 238-240

22. Spouge D, Baird PA (1986) Imperforate anus in 700,000 consecutive liveborn infants. Am J Med Genet Suppl 2:151-161

23. Stoll C, Alembik Y, Roth MP, Dott B (1997) Risk factors in congenital anal atresias. Ann Genet 40:197-204

24. Thomas MP (1977) Incidence of some surgically correctable congenital abnormalities in South Australia. J Pediatr Surg 12:693-701

25. Tong MC (1981) Anorectal anomalies: a review of 49 cases. Ann Acad Med Singapore 10:479-484

26. Skandalakis JE, Gray SW, Ricketts R (1994) The colon and rectum. In: Skandalakis JE, Gray SW (eds) Embryology for Surgeons, 2nd edn. Williams and Wilkins, Baltimore, pp. 242-281

27. Endo M, Hayashi A, Ishihara M, Maie M, Nagasaki A, Ni-shi T, Saeki M (1999) Analysis of 1,992 patients with anorectal malformations over the past two decades in Japan. Steering Committee of Japanese Study Group of Anorec-tal Anomalies. J Pediatr Surg 34:435-441

28. Santulli TV, Schullinger JN, Kiesewetter WB, Bill AH Jr (1971) Imperforate anus: a survey from the members of the Surgical Section of the American Academy of Pediatrics. J Pediatr Surg 6:484.-487

29. Cuschieri A (2002) Anorectal anomalies associated with or as part of other anomalies. Am J Med Genet 110:122-130

30. Chadha R, Bagga D, Malhotra CJ, Mohta A, Dhar A, Kumar A (1994) The embryology and management of congenital pouch colon associated with anorectal agenesis. J Pediatr Surg 29:439-446

31. Chadha R (2004) Congenital pouch colon associated with anorectal agenesis. Pediatr Surg Int 20:393-401

32. Shija JK (1986) Some observations on anorectal malformations in Zimbabwe. Cent Afr J Med 32:208-213

33. Louw JH (1965) Congenital abnormalities of rectum and anus. Curr Probl Surg 31:1-64

34. Adeyemo AA, Gbadegesin RA, Omotade OO (1997) Major congenital malformations among neonatal referrals to a Nigerian university hospital. East Afr Med J 74:699-701

35. Akamaguna AI, Odita JC (1985) Intestinal obstruction of infancy and childhood in Benin City, Nigeria. Trop Geogr Med 37:160-164

36. Ameh EA, Dogo PM, Nmadu PT (2001) Emergency neonatal surgery in a developing country. Pediatr Surg Int 17[5-6:448-451

37. Archibong AE, Idika IM (2004) Results of treatment in children with anorectal malformations in Calabar, Nigeria. S Afr J Surg 42:88-90

38. Smith ED, Stephens FD (1988) High, intermediate, and low anomalies in the male. Birth Defects Orig Artic Ser 24:17-72

39. Kiesewetter WB, Turner CR, Sieber WK (1964) Imperforate anus. Review of a sixteen year experience with 146 patients. Am J Surg 107:412-421

40. Harris J, Kallen B, Robert E (1995) Descriptive epidemiology of alimentary tract atresia. Teratology 52:15-29

41. Ratan SK, Rattan KN, Pandey RM, Mittal A, Magu S, So-dhi PK (2004) Associated congenital anomalies in patients with anorectal malformations - a need for developing a uniform practical approach. J Pediatr Surg 39:1706-1711

42. Lubinsky MS (1997) Classifying sex biased congenital anomalies. Am J Med Genet 69:225-228

43. Forrester MB, Merz RD (2002) Descriptive epidemiology of anal atresia in Hawaii, 1986-1999. Teratology 66 (Suppl 1):S12-16

44. Van Gelder DW, Kloepfer HW (1961) Familial anorectal anomalies. Pediatrics 27:334-336

45. Briard ML, Frezal J, Kaplan J, Nihoul-Fekete C, Valayer J (1977) Ano-rectal abnormalities and esophageal atresia; familial and epidemiological studies. Arch Fr Pediatr 34 (7 Suppl):CLXXII

46. Goldschmidt H, Globl H (2005) Familial occurrence of anorectal abnormalities associated with vertebral abnormalities. Helv Paediatr Acta 27:361-370

47. Manny J, Schiller M, Horner R, Stein H, Luttwak EM (1973) Congenital familial anorectal anomaly. Am J Surg 125:639-640

48. Naveh Y, Friedman A (1976) Familial imperforate anus. Am J Dis Child 130:441-442

49. Schwoebel MG, Hirsig J, Schinzel A, Staffer UG (1984) Familial incidence of congenital anorectal anomalies. J Pediatr Surg 19:179-182

50. Murken JD, Albert A (1976) Genetic counselling in cases of anal and rectal atresia. Prog Pediatr Surg 9:115-118

51. Weinstein ED (1965) Sex-linked imperforate anus. Pediatrics 35:715-718

52. Landau D, Mordechai J, Karplus M, Carmi R (1997) Inheritance of familial congenital isolated anorectal malformations: case report and review. Am J Med Genet 71:280-282

53. Al-Gazali LI, Bakir M, Hamud OA, Gerami S (2002) An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. Clin Dys-morphol 11:33-38

54. Kurosaki M, Kamitani H, Anno Y, Watanabe T, Hori T, Yamasaki T (2001) Complete familial Currarino triad. Report of three cases in one family. J Neurosurg Spine 94:158-161

55. Iinuma Y, Iwafuchi M, Uchiyama M, Yagi M, Kondoh K, Ohtani S, Kanada S, Mishina T, Saitoh H, Suzuki N (2000) A case of Currarino triad with familial sacral bony deformities. Pediatr Surg Int 16:134-135

56. Christensen K, Madsen CM, Hauge M, Kock K (1990) An epidemiological study of congenital anorectal malformations: 15 Danish birth cohorts followed for 7 years. Paedi-atr Perinat Epidemiol 4:269-275

57. Kubiak R, Upadhyay V (2005) Isolated imperforate anus in monozygotic twins: case report and implications. J Pe-diatr Surg 40:E1-4

58. Towne, PL, Brock (1972) Hereditary syndrome of imper-forate anus with hand foot and ear anomalies. J Pediatr 81:321-326

59. Thompson EM, Baraitser M, Lindenbaum RH, Zaidi ZH, Kroll JS (1985) The FG syndrome: 7 new cases. Clin Genet 27:582-594

60. Kaufman RL, Hartman A, McAlister WH, et al (1972) Family studies of congenital heart disease: a syndrome of Hydrometrocolpus, proximal polydactyly and congenital heart disease. Birth Defects Original Series 8:85-87

61. Lowe J, Kohn G, Cohen O, et al (1972) Dominant ano-rectal malformations, nephritis and nerve deafness: a possible new entity? Clin Genet 24:191-193

62. Carey JC, Greenbaum B, Hall BD (2005) The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser 14:253-263

63. Adachi M, Urata R, Takashima R, Miyamoto H, Tsunei-shi S, Nakamura H (2003) Pallister-Mosaic syndrome and neuronal migration disorder. Brain Dev 25:357-361

64. Zlotogora J, Abu-Dalu K, Lernau O, Sagi M, Voss R, Cohen T (1989) Anorectal malformations and Down syndrome. Am J Med Genet 34:330-331

65. Clarke SA, Van der Avoirt A (1999) Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination. J Pediatr Surg 34:1874

66. Agarwala S, Goswami JK, Mitra DK (1999) Pyloric atre-sia associated with epidermolysis bullosa, malrotation, and high anorectal malformation with recto-urethral fistula: a report of successful management. Pediatr Surg Int 15:264-265

67. Bai Y, Chen H, Yuan ZW, Wang W (2QQ4) Normal and abnormal embryonic development of the anorectum in rats. J Pediatr Surg 39:S87-S9Q

68. Hasse W (1976) Associated malformation with anal and rectal atresiae. Prog Pediatr Surg 9:99-1Q3

69. Bacon HE, Hering AC (1948) Surgical management of congenital malformations of the anus, rectum and colon. J Atheroscler Thromb 4:41

7Q. Lee MJ Jr (1944) Congenital anomalies of the lower part of the rectum. Am J Dis Child 68:182-189

71. Norris WJ, Brophy TW, Brayton D (1949) Imperforate anus: a case series and preliminary report on the one stage abdomino-perineal operation. Surg Gynecol Obstet 88:623-62S

72. Taneja OP, Sharma MM, Mukerji AC, Taneja S (197Q) Management of congenital anorectal malformations in India. Arch Surg 1QQ:47-S4

73. Smith ED, Saeki M (1988) Associated anomalies. Birth Defects Orig Artic Ser 24:SQ1-S49

74. Chalapathi G, Chowdhary SK, Rao KL, Samujh R, Nara-simhan KL, Mahajan JK, Menon P (2QQ4) Risk factors in the primary management of anorectal malformations in Northern India. Pediatr Surg Int 2Q:4Q8-411

75. Chen CJ (1999) The treatment of imperforate anus: experience with 1Q8 patients. J Pediatr Surg 34:1728-1732

76. Mittal A, Airon RK, Magu S, Rattan KN, Ratan SK (2QQ4) Associated anomalies with anorectal malformation (ARM). Indian J Pediatr 71:SQ9-S14

77. Janik JS, Hendrickson RJ, Janik JP, Bensard DD, Partrick DA, Karrer FM (2QQ3) Spectrum of anorectal anomalies in pygopagus twins. J Pediatr Surg 38:6Q8-612

78. Schuler L, Salzano FM (1994) Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL. Am J Med Genet 49[1:29-35

79. Poenaru D, Uroz-Tristan J, Leclerc S, Murphy S, Ben-soussan AL (1995) Imperforate anus, malrotation and Hirschsprung's disease: a rare association. Eur J Pediatr Surg 5:187-189

8Q. Haynes JH, Bagwell CE (2QQ3a) Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. J Pediatr Surg 38:1411-1412

81. Baltogiannis N, Mavridis G, Soutis M, Keramidas D (2QQ3) Currarino triad associated with Hirschsprung's disease. J Pediatr Surg 38:1Q86-1Q89

82. Flageole H, Fecteau A, Laberge JM, Guttman FM (1996) Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report. J Pediatr Surg 31:759-76Q

83. Adejuyigbe O, Abubakar AM, Sowande OA, Olayinka OS, Uba AF (2QQ4) Experience with anorectal malformations in Ile-Ife, Nigeria. Pediatr Surg Int 2Q:855-858

84. Belman AB, King LR (1972) Urinary tract abnormalities associated with imperforate anus. J Urol 108:823-824

85. Hoekstra WJ, Scholtmeijer RJ, Molenaar JC, Schreeve RH, Schroeder FH (1983) Urogenital tract abnormalities associated with congenital anorectal anomalies. J Urol 130:962-963

86. Munn R, Schillinger JF (1983) Urologic abnormalities found with imperforate anus. Urology 21:260-264

87. Parrott TS (1985) Urologic implications of anorectal malformations. Urol Clin North Am 12:13-21

88. Rich MA, Brock WA, Peña A (1988) Spectrum of genitourinary malformations in patients with imperforate anus. Pediatr Surg Int 3:110-113

89. Peña A (1990) Surgical Management of Anorectal Malformations, 1st edn. Springer Verlag, New York

90. Fleming SE, Hall R, Gysler M, McLorie GA (1986) Imper-forate anus in females: frequency of genital tract involvement, incidence of associated anomalies, and functional outcome. J Pediatr Surg 21:146-150

91. Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, et al (1997) The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet 71:8-15

92. Rittler M, Paz JE, Castilla EE (1996) VACTERL association, epidemiologic definition and delineation. Am J Med Genet 63:529-536

93. Sangkhathat S, Patrapinyokul S, Tadtayathikom K (2002) Associated genitourinary tract anomalies in anorectal malformations: a thirteen year review. J Med Assoc Thai 85:289-296

94. Quan L, Smith DW (1973) The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atre-sia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr 82:104-107

95. Kaufman RL (1973) Birth defects and oral contraceptives. Lancet 1:1396

96. Nora AH, Nora JJ (1975) A syndrome of multiple congenital anomalies associated with teratogenic exposure. Arch Environ Health 30:17-21

97. Martinez-Frias ML, Bermejo E, Frias JL (2001) The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet 60:397-398

98. McMullen KP, Karnes PS, Moir CR, Michels VV (1996) Familial recurrence of tracheoesophageal fistula and associated malformations. Am J Med Genet 63:525-528

99. Nezarati MM, McLeod DR (1999) VACTERL manifestations in two generations of a family. Am J Med Genet 82:40-42

100. Qi BQ, Beasley SW, Arsic D (2004) Abnormalities of the vertebral column and ribs associated with anorectal malformations. Pediatr Surg Int 20:529-533

101. Kim J, Kim PCW, Hui C-C (2001) The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet 59:306-315

102. Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PC (2002) Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159:765-774

103. Beasley SW, Diez Pardo J, Qi BQ, Tovar JA, Xia HM (2000) The contribution of the adriamycin-induced rat model of the VATER association to our understanding of congenital abnormalities and their embryogenesis. Pediatr Surg Int 16:465-472

104. Qi BQ, Beasley SW, Frizelle FA (2003) Evidence that the notochord may be pivotal in the development of sacral and anorectal malformations. J Pediatr Surg 38:1310-1316

105. Duncan PA, Shapiro LR (1993) Interrelationships of the hemifacial microsomia - VATER, VATER, and sirenome-lia phenotypes. Am J Med Genet 47:75-84

106. Cox PM, Gibson RA, Morgan N, Brueton LA (1997) VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mutation in the FAC gene. Am J Med Genet 68:86-90

107. Kallen K, Castilla EE, Robert E, Mastroiacovo P, Kallen B (2000) OEIS complex - a population study. Am J Med Genet 92:62-68

108. Bohring A (2002) OEIS complex, VATER, and the ongoing difficulties in terminology and delineation. Am J Med Genet 107:72-76

109. Kochling, Karbasiyan M, Reis A (2001) Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet 9:599-605

110. Nagai T, Katoh R, Hasegawa T, Ohashi H, Fukushima Y(1994) Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p. Clin Genet 45:272-273

111. Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P (1998) A homeobox gene HLXB9 is the major locus for dominantly inherited sacral agenesis. Nat Genet 20:358-361

112. Greenwood RD, Rosenthal A, Nadas AS (1975) Cardiovascular malformations associated with imperforate anus. J Pediatr 86:576-579

113. Mahajan JK, Kumar D, Chowdhary SK, Rao KL (2003) Anorectal malformation with malrotation of gut. Eur J Pe-diatr Surg 13:63-65

114. Hartman EE, Oort FJ, Aronson DC, Hanneman MJ, van der Zee DC, Rieu PN, Madern GC, van Heurn LW, van Silfhout-Bezemer M, Looyaard N, Sprangers MA (2004) Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung's disease. Am J Gastroenterol 99:907-913

115. Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW (2001) Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 102:231-236

116. Wang J, Shi C, Yu S, Wu Y, Xu C (2003) A rare association of rectal and genitourinary duplication and anorectal malformation. Chin Med J (Engl) 116:1955-1957

117. Meijers C, Mulder M (1995) Anteroposterior differences within caudal hindbrain neural crest cell populations and the development of the enteric nervous system. Presented at the Second International Meeting: Hirschsprung Disease and Related Neurocristopathies. Cleveland, Ohio, October 1995

118. Watanatittan S, Suwatanaviroj A, Limprutithum T, Rat-tanasuwan T (1991) Association of Hirschsprung's disease and anorectal malformation. J Pediatr Surg 26:192-195

119. Takada Y, Aoyama K, Goto T, Mori S (1985a) The association of imperforate anus and Hirschsprung's disease in siblings. J Pediatr Surg 20:271-273

120. Moore SW, Rode H, Millar AJ, Albertyn R, Cywes S (1991) Familial aspects of Hirschsprungs disease. Eur J Pediatr Surg 1:97-107

121. Moore SW (1993) A study of the etiology of post-surgical obstruction in patients with Hirschsprungs disease. Doctoral Thesis, University of Cape Town

122. Bitoh Y, Shimotake T, Sasaki Y, Iwai N (2002) Development of the pelvic floor muscles of murine embryos with anorectal malformations. J Pediatr Surg 37:224-227

123. Morimoto K, Takemoto O, Wakayama A (2003) Tethered cord associated with anorectal malformation. Pediatr Neurosurg 38:79-82

124. Torre M, Martucciello G, Jasonni V (2001) Sacral development in anorectal malformations and in normal population. Pediatr Radiol 31:858-862

125. Horn D, Tonnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O (2004) Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3. Am J Med Genet 128A:85-92

126. Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM (2003) Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p. Prenat Diagn 23:981-984

127. Riebel T, Kochling J, Scheer I, Oellinger J, Reis A (2004) Currarino syndrome: variability of imaging findings in 22 molecular-genetically identified (HLXB9 mutation) patients from five families. Rofo Fortschr Geb Rontgenstr Neuen Bildgeb Verfahr 176:564-569

128. Kumar A, Gupta AK, Bhatnagar V (2005) Low anorectal malformation associated with sarococcygeal teratoma. Trop Gastroenterol 25:101-102

129. Urioste M, Garcia-Andrade Mdel C, Valle L, Robledo M, Gonzalez-Palacios F, Mendez R, Ferreiros J, Nuno J, Benitez J (2005) Malignant degeneration of presacral teratoma in the Currarino anomaly. Am J Med Genet A 128:299-304

130. Seri M, Martucciello G, Paleari L, Bolino A, Priolo M, Salemi G, Forabosco P, Caroli F, Cusano R, Tocco T, Le-rone M, Cama A, Torre M, Guys JM, Romeo G, Jasonni V (1999) Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment. Hum Genet 104:108-110

131. Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J, Strachan T (1995) A gene for autosomal dominant sacral agenesis maps to the holo-prosencephaly region at 7q36. Nat Genet 11:93-95

132. Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Ja-sonni V, Torre M, Ferrari M, Tsui LC, Scherer SW (2000) Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66:312-319

133. Rosano A, Botto LD, Olney RS, Khoury MJ, Ritvanen A, et al (2000) Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems. Am J Med Genet 93:110-116

134. Kodaka T, Kanamori Y, Sugiyama M, Hashizume K (2004) A case of acrocephalosyndactyly with low imperforate anus. J Pediatr Surg 39:E32-34

135. Kondo T, Dolle P, Zakany J, Duboule D (1996) Function of posterior HoxD genes in the morphogenesis of the anal sphincter. Development 122:2651-2659

136. Fairbanks TJ, De Langhe S, Sala FG, Warburton D, Anderson KD, Bellusci S, Burns RC (2004) Fibroblast growth factor 10 (Fgf10) invalidation results in anorectal malformation in mice. J Pediatr Surg 39:360-365

137. Saxena AK, Morcate JJ, Schleef J, Reich A, Willital GH (2004) Rectal atresia, choanal atresia and congenital heart disease: a rare association. Technol Health Care 12:343-345

138. Kollarova A, Misovicova N, Malis V (1999) The Schmid-Fraccaro syndrome. Cesk Slov Oftalmol 55:362-366

139. Spadoni E, Castelnovi C, Maraschio P, Stacul E, Beluffi G, Bozzola M, Danesino C (2004) Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome. Am J Med Genet A 128:57-59

140. Mandhan P, Qi BQ, Beasley SW (2005) Aberrations of the intrinsic innervation of the anorectum in fetal rats with anorectal malformations. J Pediatr Surg 40:397-402

141. Martucciello G, Mazzola C, Favre A, Negri F, Bertagnon M, Morando A, Torre M, Gambini C, Jasonni V (1999) Preoperative enzymo-histochemical diagnosis of dysgan-glionoses associated with anorectal malformations (ARM) with recto-vestibular and recto-perineal fistula. Eur J Pe-diatr Surg 9:96-100

142. Parida SK, Hall BD, Barton L, Fujimoto A (1995) Peno-scrotal transposition and associated anomalies: report of five new cases and review of the literature. Am J Med Genet 59:68-75

143. Bass J (1991) Radial artery hypoplasia: a further association with the VATER syndrome? J Urol 146:824-825

144. Merei JM (2003) Single umbilical artery and the VATER-animal model. J Pediatr Surg 38:1756-1759

145. Padmanabhan R (1998) Retinoic acid-induced caudal regression syndrome in the mouse fetus. Reprod Toxicol 12:139-151

146. Pitera JE, Smith VV, Woolf AS, Milla PJ (2001) Embryonic gut anomalies in a mouse model of retinoic acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies. Am J Pathol 159:2321-2329

147. Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G (2002) Developmental field defects: coming together of associations and sequences during blastogenesis. Am J Med Genet 110:320-323

148. Kluth D, Lambrecht W (1997) Current concepts in the embryology of anorectal malformations. Semin Pediatr Surg 6:180-186

149. Ince TA, Cviko AP, Quade BJ, Yang A, McKeon FD, Mutter GL, Crum CP (2002) p63 Coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. Am J Pathol 161:1111-1117

150. Dravis C, Yokoyama N, Chumley MJ, Cowan CA, Silvany RE, Shay J, Baker LA, Henkemeyer M (2004) Bidirectional signaling mediated by ephrin-B2 and EphB2 controls uro-rectal development. Dev Biol 271:272-290

151. Kimmel SG, Mo R, Hui CC, Kim PC (2000) New mouse models of congenital anorectal malformations. J Pediatr Surg 35:227-230

152. Hess R, Scarpelli DG, Pearse AG (1958) The cytochemi-cal localization of oxidative enzymes II Pyridine nucleo-tide-linked dehydrogenases. J Biophys Biochem Cytol 4:753-760

153. Martinez-Frias ML, Bermejo E, Frias JL (2001) The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet 60:397-398

154. Hori T, Giuffra E, Andersson L, Ohkawa H (2001) Mapping loci causing susceptibility to anal atresia in pigs, using a resource pedigree. J Pediatr Surg 36:1370-1374

155. Trusler GA, Mestel AL, Stephens CA (1959) Colon malformation with imperforate anus. Surgery 45:328-334

156 Stone HH, Wilkinson AW (1983) Experimental production of rectal stenosis and atresia in the rabbit. J Pediatr Surg 18:89-90

157. Bourdelat D, Labbe F, Pillet J, Delmas P, Hidden G, Hureau J (1988) A study in organogenesis: the arterial supply of the anorectal region in the human embryo and fetus. Anatomic and embryologic bases of anorectal malformations. Surg Radiol Anat 10:37-51

158. Lambrecht W, Riebel T, Weinland G (1986) Vascular supply of the rectum in anal atresia. Angiography studies in newborn swine. Z Kinderchir 41:340-343

159. Stephens FD, Donnellan WL (1977) "H-type" urethroanal fistula. J Pediatr Surg 12:95-102

160. Willems M, Kluth D, Lambrecht W (1996) Anorectal malformation: a new anatomic variant resembling an H-type fistula. J Pediatr Surg 31:1682-1684

161. Ives EJ (1962) Thalidomide and anal anomalies. Can Med Assoc J 87:670-672

162. Baynash AG, Hosoda K, Giaid A, et al (1994) Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79:1277-1285

163. Hosoda K, Hammer RE, Richardson JA, et al (1994) Targeted and natural (piebald-lethal) mutations of endothe-lin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79:1267-1276

164. Dembowski C, Hofmann P, Koch T, Kamrowski-Kruck H, Riedesel H, Krammer HJ, Kaup FJ, Ehrenreich H (2000) Phenotype, intestinal morphology, and survival of homo-zygous and heterozygous endothelin B receptor-deficient (spotting lethal) rats. J Pediatr Surg 35:480-488

165. Pla P, Larue L (2004) Involvement of endothelin receptors in normal and pathological development of neural crest cells. Int J Dev Biol 47:315-325

166. Arai H, Nakao K, Takaya K, et al (1993) The human endo-thelin-B receptor gene: structural organisation and chromosomal assignment. J Biol Chem 268:3463-3470

167. Sakurai T, Yanagisawa M, Takuwa Y, Miyazaki H, Kimura S, Goto K, Masaki T (1990) Cloning of a cDNA encoding a non-isopeptide-selective subtype of the endothelin receptor. Nature 348:732-735

168. Shichiri M, Kato H, Marumo F, Hirata Y (1997) Endothe-lin-1 as an autocrine/paracrine apoptosis survival factor for endothelial cells. Hypertension 30:1198-1203

169. Lahav R, Suva ML, Rimoldi D, Patterson PH, Stamenkovic I (2004) Endothelin receptor B inhibition triggers apopto-sis and enhances angiogenesis in melanomas. Cancer Res 64:8945-8953

170. Yanagisawa M, Kurihara H, Kimura S, Goto K, Masaki T (1988) A novel peptide vasoconstrictor, endothelin, is produced by vascular endothelium and modulates smooth muscle Ca2+ channels. J Hypertens Suppl 6:S188-191

171. Nankervis CA, Reber KM, Nowicki PT (2001) Age-dependent changes in the postnatal intestinal microcirculation. Microcirculation 8:377-387

172. Siren AL, Lewczuk P, Hasselblatt M, Dembowski C, Schilling L, Ehrenreich H (2002) Endothelin B receptor deficiency augments neuronal damage upon exposure to hy-poxia-ischemia in vivo. Brain Res 945:144-149

173. Murakoshi N, Miyauchi T, Kakinuma Y, Ohuchi T, Goto K, Yanagisawa M, Yamaguchi I (2002) Vascular endothelin-B receptor system in vivo plays a favorable inhibitory role in vascular remodeling after injury revealed by endothelin-B receptor-knockout mice. Circulation 106:1991-1998

174. Moore SW, Zaahl MG (2006) Association of Endothelin-ß receptor (EDNRB) gene variants in Anorectal malformations. J Pediatr Surg (in press)

175. Bonnot O, Vollset SE, Godet PF, d'Amato T, Dalery J, Robert E (2003) In utero exposure to benzodiazepine. Is there a risk for anal atresia with lorazepam? Encephale 29:553-559

176. Hashimoto R, Nagaya M, Ishiguro Y, Inouye M, Aoyama H, Futaki S, Murata Y (2002) Relationship of the fistulas to the rectum and genitourinary tract in mouse fetuses with high anorectal malformations induced by all-trans retinoic acid. Pediatr Surg Int 18:723-727

177. Yu J, Gonzalez S, Martinez L, Diez-Pardo JA, Tovar JA (2003) Effects of retinoic acid on the neural crest-controlled organs of fetal rats. Pediatr Surg Int 19:355-358

178. Liu Y, Sugiyama F, Yagami K, Ohkawa H (2003) Sharing of the same embryogenic pathway in anorectal malformations and anterior sacral myelomeningocele formation. Pediatr Surg Int 19:152-156

179. Sasaki Y, Iwai N, Tsuda T, Kimura O (2005) Sonic hedgehog and bone morphogenetic protein 4 expressions in the hindgut region of murine embryos with anorectal malformations. J Pediatr Surg 39:170-173

180. Angerpointner T, Radtke W, Murken JD (1981) Catam-nestic investigations in children with malformations of the gastrointestinal tract and the abdominal wall. Z Kinderchir 32:129-144

181. Mulvihill JJ (2005) Clinical ecogenetics - cancer in families. N Engl J Med 312:1569-1570

182. Jo Mauch T, Albertine KH (2002) Urorectal septum malformation sequence: Insights into pathogenesis. Anat Rec 268:405-410

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