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The Alimentary Tract and Exocrine Pancreas

  • Liina KihoEmail author

Abstract

Gastrointestinal (GI) abnormality is common in both the fetus and the neonate. GI malformations are diagnosed in fetal life with increasing frequency, enabling delivery in units with appropriate facilities. GI malformations, both isolated and syndromic, are encountered at autopsy, although only a small proportion are in themselves fatal. Malformations and postnatally acquired diseases contribute to neonatal morbidity and mortality, comprising most of the histopathological specimens received from neonatal surgical units. An understanding of GI development, the range of pathological abnormalities, and their associations and significance makes an important contribution to clinical management of the affected individual and his family.

Keywords

Fetus Neonate Gastrointestinal tract Developmental abnormality Cleft lip Cleft palate Atresia Tracheoesophageal fistula Enteric duplication Cyst Meconium ileus Perforation Necrotizing enterocolitis Hirschsprung’s disease Gastroschisis Omphalocele Pancreas 

References

  1. 1.
    Okamoto E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung’s disease. J Pediatr Surg. 1967;2:437–43.Google Scholar
  2. 2.
    Andrew A. The origin of intramural ganglia. IV The origin of enteric ganglia: a critical review and discussion of the present state of the problem. J Anat. 1971;108:169–84.PubMedPubMedCentralGoogle Scholar
  3. 3.
    Kiefer J. Molecular mechanisms of early gut organogenesis: a primer on development of the digestive tract. Dev Dyn. 2003;228:287–91.PubMedGoogle Scholar
  4. 4.
    Beck F. Homeobox genes in gut development. Gut. 2002;51:450–4.PubMedPubMedCentralGoogle Scholar
  5. 5.
    Prakash S, Rodes L, Coussa-Charley M, Tomaro-Duchesneau C. Gut microbiota: next frontier in understanding human health and development of biotherapeutics. Biol Targets Ther. 2011;5:71–86.Google Scholar
  6. 6.
    Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet. 1999;8:1853–9.PubMedGoogle Scholar
  7. 7.
    Scott NM, Weinberg SM, Neiswanger K, Brandon CA, Marazita ML. Hair whorls and handedness: informative markers in non-syndromic cleft lip with or without cleft palate (NSCL/P) cases and their unaffected relatives. Am J Med Genet A. 2005;136:158–61.PubMedGoogle Scholar
  8. 8.
    Yu W, Serrano M, San Miguel S, Bruno Ruest L, Svoboda KKH. Cleft lip and palate genetics and application in early embryological development. Indian J Plast Surg. 2009;42:S35–50.PubMedPubMedCentralGoogle Scholar
  9. 9.
    Stanier P, Moore GF. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet. 2004;13:R73–81.PubMedGoogle Scholar
  10. 10.
    Bille C, Skytthe A, Vach W, et al. Parent’s age and risk of facial clefts. Epidemiology. 2005;16:311–6.PubMedPubMedCentralGoogle Scholar
  11. 11.
    Carinci F, Rollo R, Farina A, et al. Non-syndromic facial clefts in Southern Italy: pattern analysis according to gender, history of maternal smoking, folic acid intake and familial diabetes. J Craniofac Surg. 2005;33:91–4.Google Scholar
  12. 12.
    Suwa F, Jin Y, Lu H, Li X, Tipoe GL, Lau Y, et al. Alteration of apoptosis in cleft palate formation and ectomesenchymal stem cells influenced by retinoic acid. Okajimas Folia Anat Jpn. 2001;78:179–86.PubMedGoogle Scholar
  13. 13.
    Hu X, Gao J, Liao Y, Tang S, Lu F. Retinoic acid alters the proliferation and survival of the epithelium and mesenchyme and suppresses Wnt/β-catenin signaling in developing cleft palate. Cell Death Dis. 2013;4:e898. doi: 10.1038/cddis.2013.424.CrossRefPubMedPubMedCentralGoogle Scholar
  14. 14.
    Choi JW, Park HW, Kwon YJ, Park BY. Role of apoptosis in retinoic acid-induced cleft palate. J Craniofac Surg. 2011;22:1567–71.PubMedGoogle Scholar
  15. 15.
    Jones KL. Smith’s recognizable patterns of human malformations. 6th ed. Philadelphia: Saunders; 2006.Google Scholar
  16. 16.
    De Serpa Pinto MV, DeMagalhaes MH, Nunes FD. Moebius syndrome with oral involvement. Int J Pediatr Dent. 2002;12:446–9.Google Scholar
  17. 17.
    Armbrust S, Hoffman R, Jochum F, Neumann LM, Fusch C. Restrictive dermopathy associated with transposition of the great arteries microcolon: a rare neonatal entity with new symptoms. Arch Dermatol. 2005;141:611–3.PubMedGoogle Scholar
  18. 18.
    McKenzie F, Turner A, Withers S, et al. Dominant inheritance of cleft palate, microstomia and micrognathia – possible linkage to the fragile site at 16q22(FRA 16B). Clin Dysmorph. 2002;11:237–41.PubMedGoogle Scholar
  19. 19.
    Stevens CA, Sargeant LA. Ablepharon-macrostomia syndrome. Am J Med Genet. 2002;107:30–7.PubMedGoogle Scholar
  20. 20.
    Howell WE, Stein H, Romaro AJ. Sublingual dermoid cyst in infant: report of case. J Oral Surg. 1972;30:437–41.PubMedGoogle Scholar
  21. 21.
    Fuhr AH, Krogh PHJ. Congenital epulis of the newborn. J Oral Surg. 1972;30:30–5.PubMedGoogle Scholar
  22. 22.
    Parmigiani S, Giordano G, Fellagra G, et al. A rare case of multiple congenital epulis. J Matern Fetal Neonatal Med. 2004;16:55–8.PubMedGoogle Scholar
  23. 23.
    Bilen BT, Alaybeyoglu N, Arslan A, et al. Obstructive congenital gingival granular cell tumour. Int J Pediatr Otorhinolaryngol. 2004;68:1567–71.PubMedGoogle Scholar
  24. 24.
    Olson JL, Marcus JR, Zuker RM. Congenital epulis. J Craniofac Surg. 2005;16:161–4.PubMedGoogle Scholar
  25. 25.
    Lack EE. Extragonadal germ cell tumors of the head and neck region: review of 16 cases. Hum Pathol. 1985;16:56–64.Google Scholar
  26. 26.
    Smith NM, Chambers SE, Billson VR, et al. Oral teratoma (epignathus) with intracranial extension: a report of two cases. Prenat Diag. 1993;13:945–52.Google Scholar
  27. 27.
    Rotenberg B, El-Hakim H, Lodha A. Nasopharyngeal teratocarcinosarcoma. Int J Pediatr Otorhynolaryngol. 2002;62:159–64.Google Scholar
  28. 28.
    Cunha RF, Carrilho Boer FA, Dias Torriani D, Frossard W. Natal and neonatal teeth: review of literature. Pediatr Dent. 2001;23:158–62.PubMedGoogle Scholar
  29. 29.
    Smith SR, Shneider BL, Magid M, Martin G, Rotschild M. Minor salivary gland biopsy in neonatal hemochromatosis. Arch Otolaryngol Head Neck Surg. 2004;130:760–3.PubMedGoogle Scholar
  30. 30.
    Martinez-Mora J, Boix-Ochoa J, Tresserra L. Vascular tumours of the parotid region in children. Surg Gynecol Obstet. 1971;133:973–7.PubMedGoogle Scholar
  31. 31.
    Tang TT, Glicklich M, Siegesmund KA, Oechler HW, McCreadie SR. Neonatal cystic choristoma in submandibular salivary gland simulating cystic hygroma. Arch Pathol Lab Med. 1979;103:537–9.Google Scholar
  32. 32.
    Vawter GF, Tefft M. Congenital tumours of the parotid gland. Arch Pathol. 1966;82:242–5.PubMedGoogle Scholar
  33. 33.
    Variend S, Howat AJ. Upper oesophageal gastric heterotopia: a prospective necropsy study in children. J Clin Path. 1988;41:742–545.PubMedGoogle Scholar
  34. 34.
    Gilbert-Barness E, editor. Potter’s pathology of the fetus, infant and child, vol. 2. Philadelphia: Mobsy/Elsevier; 2007.Google Scholar
  35. 35.
    Merriam JC, Benirschke K. Esophageal erosions in the newborn. Lab Invest. 1959;8:39–47.PubMedGoogle Scholar
  36. 36.
    Kuo B, Urma D. Esophagus – anatomy and development. Part 1. Oral cavity, pharynx and esophagus. 2006. www.nature.com/gimo/contents/pt1/full/gimo6/html
  37. 37.
    Weaver DD, Mapstone CL, Yu P. The Vater association. Analysis of 46 patients. Am J Dis Child. 1986;140:225–9.PubMedGoogle Scholar
  38. 38.
    Holder TM, Cloud DT, Lewis JE, Pilling IV GP. Esophageal atresia and tracheoesophageal fistula. Pediatrics. 1964;34:542–9.PubMedGoogle Scholar
  39. 39.
    van Dooren M, Tibboel D, Torfs C. The co-occurrence of congenital diaphragmatic hernia, esophageal atresia/tracheoesophageal fistula and lung hypoplasia. Birth Defects Res A Clin Mol Teratol. 2005;73:53–7.PubMedGoogle Scholar
  40. 40.
    Robertson FM, Crombleholme TM, Paidas M, Harris BH. Prenatal diagnosis and management of gastrointestinal anomalies. Semin Perinatol. 1994;18:182–95.PubMedGoogle Scholar
  41. 41.
    Quan L, Smith DW. The VATER association. J Pediatr. 1973;82:104–7.PubMedGoogle Scholar
  42. 42.
    Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr. 1974;85:345–9.PubMedGoogle Scholar
  43. 43.
    Saur D, Vanderwinden JM, Seidler B, et al. Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. Proc Natl Acad Sci U S A. 2004;101:1662–7.PubMedPubMedCentralGoogle Scholar
  44. 44.
    Piotrowska AP, Solari V, Puri P. Distribution of heme oxygenase-2 in nerves and interstitial cells of Cajal in the normal pylorus and in infantile hypertrophic pyloric stenosis. Arch Pathol Lab Med. 2003;127:1182–6.PubMedGoogle Scholar
  45. 45.
    Dick AC, Ardill J, Potts SR, Dodge JA. Gastrin, somatostatin and hypertrophic pyloric stenosis. Acta Paediatr. 2001;90:879–82.PubMedGoogle Scholar
  46. 46.
    Cooper WO, Griffin MR, Arbogast P, et al. Very early exposure to erythromycin and infantile hypertrophic pyloric stenosis. Arch Pediatr Adolesc Med. 2002;156:647–50.PubMedGoogle Scholar
  47. 47.
    Parrish RA, Sherman RT, Wilson H. Spontaneous rupture of the gastro-enteric tract in the newborn: a report of 13 cases and description of a characteristic x-ray finding. Ann Surg. 1964;159:244–51.PubMedPubMedCentralGoogle Scholar
  48. 48.
    Touloukian RJ. Gastric ischaemia: the primary factor in neonatal perforation. Clin Paediatr. 1973;12:219–25.Google Scholar
  49. 49.
    Holgersen LO. The etiology of spontaneous gastric perforation of the newborn: a re-evaluation. J Pediatr Surg. 1981;16:608–13.PubMedGoogle Scholar
  50. 50.
    Rosser SB, Clark CH, Elechi EN. Spontaneous neonatal gastric perforation. J Pediatr Surg. 1982;17:390–4.PubMedGoogle Scholar
  51. 51.
    Nacheff M, Morgan R, Einsenstein EM. The surgical treatment of perforated duodenal ulcer in the newborn. Am J Surg. 1964;108:717–23.PubMedGoogle Scholar
  52. 52.
    Bell MJ, Keating JP, Ternberg JL, Bower RJ. Perforated stress ulcers in infants. J Pediatr Surg. 1981;16:998–1002.PubMedGoogle Scholar
  53. 53.
    Shrivastava R, Rathore M, Goyal R, Thapa BR. Stress duodenal ulcer presenting as hematochezia in a neonate. J Pediatr Sci. 2013;5:e178.Google Scholar
  54. 54.
    Wilson RG, George RJ, McCormick WJ, Raine PAM. Duodenal perforation associated with tolazoline. Arch Dis Child. 1985;60:878–9.PubMedPubMedCentralGoogle Scholar
  55. 55.
    Chang CH, Perrin EV, Bove KE. Pyloric atresia associated with epidermolysis bullosa: special reference to pathogenesis. Pediatr Pathol. 1983;1:449–57.PubMedGoogle Scholar
  56. 56.
    Rennie JM, editor. Robertson’s textbook of neonatology. 4th ed. Edinburgh: Elsevier; 2010.Google Scholar
  57. 57.
    Zahir I, Yusuf S, Zada F, Asif M, Akhtar N, Zaheer Abbasi M. Duplication cyst in a newborn. Int J Pathol. 2010;8:84–6.Google Scholar
  58. 58.
    Bissler JJ, Klein RL. Alimentary tract duplications in children: case and literature review. Clin Pediatr. 1988;27:152–7.Google Scholar
  59. 59.
    Master V, Woods RH, Morris LL, Freeman J. Gastric duplication cyst causing gastric outlet obstruction. Pediatr Radiol. 2004;34:574–6.PubMedGoogle Scholar
  60. 60.
    Bremer JL. Diverticula and duplications of the intestinal tract. Arch Pathol. 1944;38:132–40.Google Scholar
  61. 61.
    Khoury T, Rivera L. Foregut duplication cysts: a report of two cases with emphasis on embryogenesis. World J Gastroenterol. 2011;17:130–4.PubMedPubMedCentralGoogle Scholar
  62. 62.
    Favara BE, Franciosi RA, Akers DR. Enteric duplications. Thirty seven cases: a vascular theory of pathogenesis. Am J Arch Dis Child. 1971;122:501–6.Google Scholar
  63. 63.
    Veeneklaas GMH. Pathogenesis of intrathoracic gastrogenic cysts. Am J Dis Child. 1952;83:500–7.Google Scholar
  64. 64.
    Fallon M, Gordon ARG, Lendrum AC. Mediastinal cysts of foregut origin associated with vertebral abnormalities. Br J Surg. 1954;41:520–33.PubMedGoogle Scholar
  65. 65.
    Emura T, Hashizume K, Asashims M. Experimental study of the embryogenesis of gastrointestinal duplication and enteric cyst. Pediatr Surg Int. 2003;19:147–51.PubMedGoogle Scholar
  66. 66.
    Heller K, Waag KL, Beyersdorf F. Intestinal duplications – intestinal diverticula – segmental dilatation of the intestine: a common genetic complex. Pediatr Surg Int. 1989;4:249–53.Google Scholar
  67. 67.
    Grosfeld JL, O’Neill JA, Clatworthy HW. Enteric duplications in infancy and childhood: an 18 year review. Ann Surg. 1970;172:83–90.PubMedPubMedCentralGoogle Scholar
  68. 68.
    Lemire RJ, Graham CB, Beckwith JB. Skin-covered sacrococcygeal masses in infants and children. J Pediatr. 1971;79:948–54.PubMedGoogle Scholar
  69. 69.
    Cunningham P, Rose JS, Sokol A, Bleicher MA. A case of neonatal intussusception. J Pediatr Surg. 1980;15:203–4.PubMedGoogle Scholar
  70. 70.
    Duncan BW, Adzick NS, Eraklis A. Retroperitoneal alimentary tract duplications detected in utero. J Pediatr Surg. 1992;27:1231–3.PubMedGoogle Scholar
  71. 71.
    McLetchie NGB, Purves JK, Saunders RLCH. The genesis of gastric and certain intestinal diverticula and enterogenous cysts. Surg Gynecol Obstet. 1954;99:135–41.PubMedGoogle Scholar
  72. 72.
    Goldberg HM, Johnson TP. Posterior abdominothoracic enteric duplications. Br J Surg. 1962;50:445–9.Google Scholar
  73. 73.
    Brink DA, Balsara ZN. Prenatal ultrasound detection of intra-abdominal pulmonary sequestration with postnatal MRI correlation. Pediatr Radiol. 1991;21:227.PubMedGoogle Scholar
  74. 74.
    De Krijger RR, Albers MJ, Bogers AJ, Mooi WJ. Heterotopic pancreatic tissue presenting as solid and cystic lung lesion: a very unusual bronchopulmonary foregut malformation. Pediatr Dev Pathol. 2004;7:204–9.PubMedPubMedCentralGoogle Scholar
  75. 75.
    De Perrot M, Brundler M, Tutsch M, Mentha G, Morel P. Mesenteric cysts. Towards less confusion? Dig Surg. 2000;17:323–8.PubMedGoogle Scholar
  76. 76.
    Bentley JFR, Smith JR. Developmental posterior enteric remnants and spinal malformations. The split notochord syndrome. Arch Dis Child. 1960;35:76–86.PubMedPubMedCentralGoogle Scholar
  77. 77.
    Almog B, Leibovitch L, Achiron R. Split notochord syndrome – prenatal ultrasonographic diagnosis. Prenat Diagn. 2001;21:1159–62.PubMedGoogle Scholar
  78. 78.
    Mirza B, Sheikh A. J Pediatr Neurosci. 2011;6:87–8.PubMedPubMedCentralGoogle Scholar
  79. 79.
    Smith JR. Accessory enteric formations. Arch Dis Child. 1960;35:87–9.PubMedPubMedCentralGoogle Scholar
  80. 80.
    Jackson RH, Bird AR. Meckel’s diverticulum in childhood. Br Med J. 1961;II:1399–402.Google Scholar
  81. 81.
    Moore TC, Schumacker HB. Intussusception of ileum through persistent omphalomesenteric duct. Surgery. 1952;31:278–84.PubMedGoogle Scholar
  82. 82.
    Snyder WH, Chaffin L. Embryology and pathology of the intestinal tract: presentation of 40 cases of malrotation. Ann Surg. 1954;140:368–79.PubMedPubMedCentralGoogle Scholar
  83. 83.
    Stewart DR, Colodny AL, Dagget WC. Malrotation of the bowel in infants and children: a 15 year review. Surgery. 1976;79:716–20.PubMedGoogle Scholar
  84. 84.
    Kiesewetter WB, Smith JE. Malrotation of the midgut in infancy and childhood. AMA Arch Surg. 1958;77:483–91.PubMedGoogle Scholar
  85. 85.
    Chang J, Brueckner M, Rouloukian RJ. Intestinal rotation and fixation abnormalities in heterotaxia: early detection and management. J Pediatr Surg. 1993;28:1281–5.PubMedGoogle Scholar
  86. 86.
    Reiquam CW, Allen RP, Akers DR. Normal and abnormal small bowel lengths. An analysis of 389 autopsy cases in infants and children. Am J Dis Child. 1965;109:447–51.PubMedGoogle Scholar
  87. 87.
    Benson CD, Lloyd JR, Smith JD. Resection and primary anastomosis in the management of stenosis and atresia of the jejunum and ileum. Pediatrics. 1960;26:265–72.PubMedGoogle Scholar
  88. 88.
    Yutani C, Sakurai M, Miyaji T, Okuno M. Congenital short intestine. Arch Pathol. 1973;96:81–2.PubMedGoogle Scholar
  89. 89.
    Erez I, Reish O, Kovalivker M, et al. Congenital short-bowel syndrome and malrotation: clinical presentation and outcome of six affected offspring in three related families. Eur J Pediatr Surg. 2001;11:331–4.PubMedGoogle Scholar
  90. 90.
    Gutierrez IM, Kang KH, Jaksic T. Neonatal short bowel syndrome. Semin Fetal Neonatal Med. 2011;16:157–63.PubMedGoogle Scholar
  91. 91.
    Vecchia LKD, Grosfeld JL, West KW, Rescorla FJ, Scherer LR, Engum SA. Intestinal atresia and stenosis: 25 year experience with 277 cases. Arch Surg. 1998;133:490–7.PubMedGoogle Scholar
  92. 92.
    Grosfeld JL, Ballantine TVN, Shoemaker R. Operative management of intestinal atresia and stenosis based on pathologic findings. J Pediatr Surg. 1979;14:368–75.PubMedGoogle Scholar
  93. 93.
    Santulli TV, Blanc WA. Congenital atresia of the intestine: pathogenesis and treatment. Am Surg. 1961;151:939–48.Google Scholar
  94. 94.
    Young DG, Wilkinson AW. Abnormalities associated with neonatal duodenal obstruction. Surgery. 1968;63:832–6.PubMedGoogle Scholar
  95. 95.
    Fonkalsrud EW, de Lorimier AA, Hays DM. Congenital atresia and stenosis of the duodenum. Pediatrics. 1969;43:79–83.PubMedGoogle Scholar
  96. 96.
    Holder-Espinase M, Ahmad Z, Hamill J, et al. Familial syndromic duodenal atresia: Feingold syndrome. Eur J Pediatr Surg. 2004;14:112–6.PubMedGoogle Scholar
  97. 97.
    Santulli TV, Amoury RA. Congenital anomalies of the gastrointestinal tract. Pediatr Clin North Am. 1967;14:21–45.PubMedGoogle Scholar
  98. 98.
    Louw JH. Jejunoileal atresia and stenosis. J Pediatr Surg. 1966;1:8–23.Google Scholar
  99. 99.
    Tibboel D, van Nie CJ, Molenaar JC. The effects of temporary general hypoxia and local ischemia on the development of the intestines: an experimental study. J Pediatr Surg. 1980;15:57–62.PubMedGoogle Scholar
  100. 100.
    deLorimier AA, Fonkalsrud EW, Hays DM. Congenital atresia and stenosis of the jejunum and ileum. Surgery. 1969;65:819–27.PubMedGoogle Scholar
  101. 101.
    Nixon HH, Tawes R. Etiology and treatment of small intestinal atresia: analysis of a series of 127 jejunoileal atresias and comparison with 62 duodenal atresias. Surgery. 1971;69:41–51.PubMedGoogle Scholar
  102. 102.
    Blyth H, Dickson JAS. Apple peel syndrome (congenital intestinal atresia). A family study of seven index patients. J Med Genet. 1969;6:275–7.PubMedPubMedCentralGoogle Scholar
  103. 103.
    Pumberger W, Birnbacher R, Pomberger G, Dentinger J. Duodeno-jejunal atresia with volvulus, absent dorsal root mesentery, and absent superior mesenteric artery: a hereditary compound structure in duodenal atresia? Am J Med Genet. 2002;109:52–5.PubMedGoogle Scholar
  104. 104.
    Collins DL, Kimura K, Morgan A. Multiple intestinal atresia and amyoplasia congenita in four unrelated infants: a new association. J Pediatr Surg. 1986;21:331–3.PubMedGoogle Scholar
  105. 105.
    van der Doef HPJ, Kokke FTM, van der Ent CK, Houwen RHJ. Intestinal obstruction syndromes in cystic fibrosis: meconium ileus, distal intestinal obstruction syndrome, and constipation. Curr Gastroenterol Rep. 2011;13:265–70.PubMedPubMedCentralGoogle Scholar
  106. 106.
    Kopel FB. Gastrointestinal manifestations of cystic fibrosis. Curr Clin Concepts. 1972;62:483–91.Google Scholar
  107. 107.
    Boué A, Muller F, Nezelof C, et al. Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis. Hum Genet. 1986;74:288–97.PubMedGoogle Scholar
  108. 108.
    Holsclaw DS, Eckstein HB, Nixon HH. Meconium ileus. A 20 year review of 109 cases. Am J Dis Child. 1965;109:101–13.PubMedGoogle Scholar
  109. 109.
    Muller F, Aubry MC, Gasser B, et al. Prenatal diagnosis of cystic fibrosis. Prenat Diagn. 1985;5:109–17.PubMedGoogle Scholar
  110. 110.
    Oppenheimer EH, Esterly JR. Observations in cystic fibrosis of the pancreas. II. Neonatal intestinal obstruction. Bull Johns Hopkins Hosp. 1962;111:1.PubMedGoogle Scholar
  111. 111.
    Bernstein J, Vawter G, Harris GBC, Young V, Hillman LS. The occurrence of intestinal atresia in newborns with meconium ileus. Am J Dis Child. 1960;99:804–18.Google Scholar
  112. 112.
    Thomaidis TS, Arey JB. The intestinal lesions in cystic fibrosis of the pancreas. J Pediatr. 1963;63:444–53.PubMedGoogle Scholar
  113. 113.
    Park RW, Grand RJ. Gastrointestinal manifestations of cystic fibrosis: a review. Gastroenterology. 1981;81:1143–61.PubMedGoogle Scholar
  114. 114.
    Donnison AB, Shwachman H, Gross RE. A review of 164 children with meconium ileus seen at the Children’s Hospital Medical Center, Boston. Pediatrics. 1966;37:833–50.PubMedGoogle Scholar
  115. 115.
    Clatworthy HW, Howard WHR, Lloyd J. The meconium plug syndrome. Surgery. 1956;39:131–42.PubMedGoogle Scholar
  116. 116.
    Olsen MM, Luck SR, Lloyd-Still J, Raffensperger JG. The spectrum of meconium disease in infancy. J Pediatr Surg. 1982;17:479–81.PubMedGoogle Scholar
  117. 117.
    Keckler SJ, St Peter SD, Spilde TL, Tsao K, Ostlie DJ, Holcomb III GW, Snyder CL. Current significance of meconium plug syndrome. J Pediatr Surg. 2008;43:896–8.PubMedPubMedCentralGoogle Scholar
  118. 118.
    Burge D, Drewett M. Meconium plug obstruction. Pediatr Surg Int. 2004;20:108–10.PubMedGoogle Scholar
  119. 119.
    Philippart AI, Reed JO, Geargeson KE. Neonatal small left colon syndrome: intramural not intraluminal obstruction. J Pediatr Surg. 1975;10:733–9.PubMedGoogle Scholar
  120. 120.
    Cook RCM, Rickham PP. Neonatal intestinal obstruction due to milk curds. J Pediatr Surg. 1969;4:599–605.PubMedGoogle Scholar
  121. 121.
    Rickham PP, Boeckman CR. Neonatal meconium obstruction in the absence of mucoviscidosis. Am J Surg. 1965;109:173–7.PubMedGoogle Scholar
  122. 122.
    Vinograd I, Mogle P, Peleg O, Alpan G, Lernau OZ. Meconium disease in premature infants with very low birth weight. J Pediatr. 1983;103:963–6.PubMedGoogle Scholar
  123. 123.
    Garza-Cox S, Keeney SE, Angel CA, Thompson LL, Swischuck LE. Meconium obstruction in the very low birth weight premature infant. Pediatrics. 2004;114:285–90.PubMedGoogle Scholar
  124. 124.
    King A, Mueller RF, Heeley AR, Roberton NRC. Diagnosis of cystic fibrosis in premature infants. Pediatr Res. 1986;20:536–41.PubMedGoogle Scholar
  125. 125.
    Déchelotte PJ, Mulliez NM, Bouvier RJ, Vanlieféringhen P, Lémery DJ. Pseudo-meconium ileus due to cytomegalovirus infection: a report of three cases. Pediatr Pathol. 1992;12:73–82.PubMedGoogle Scholar
  126. 126.
    Siplovich L, Davies MRQ, Kaschula ROC, Cywes S. Intestinal obstruction in the newborn with congenital syphilis. J Pediatr Surg. 1988;23:810–3.PubMedGoogle Scholar
  127. 127.
    Rickham PP. Peritonitis in the neonatal period. Arch Dis Child. 1955;30:23–31.PubMedPubMedCentralGoogle Scholar
  128. 128.
    White RB. Meconium peritonitis: a surgical emergency. J Pediatr. 1956;48:793–6.PubMedGoogle Scholar
  129. 129.
    Konje JC, de Chazal R, MacFadyen U, Taylor DJ. Antenatal diagnosis and management of meconium peritonitis: a case report and review of the literature. Ultrasound Obstet Gynaecol. 1995;6:66–9.Google Scholar
  130. 130.
    Eckholdt F, Heling KS, Woderich R, et al. Meconium peritonitis and pseudo-cyst formation: prenatal diagnosis and post-natal course. Prenat Diag. 2003;23:904–8.Google Scholar
  131. 131.
    Berdon WE, Baker DH, Wigger HJ, et al. Calcified intraluminal meconium in newborn males with imperforate anus. AJR. 1975;125:449–55.Google Scholar
  132. 132.
    Miller JP, Smith SD, Newman B, Sukarochana K. Neonatal abdominal calcification: is it always meconium peritonitis? J Pediatr Surg. 1988;23:555–6.PubMedGoogle Scholar
  133. 133.
    Hu MX, Methratta S. An unusual case of neonatal peritoneal calcifications associated with hydrometrocolpos. Pediatr Radiol. 2001;31:742–4.PubMedGoogle Scholar
  134. 134.
    Forouhar F. Meconium peritonitis. Am J Clin Pathol. 1982;78:208–13.PubMedGoogle Scholar
  135. 135.
    Lorimer WS, Ellis DG. Meconium peritonitis. Surgery. 1966;60:470–5.PubMedGoogle Scholar
  136. 136.
    Smith B, Clatworthy HW. Meconium peritonitis: prognostic significance. Pediatrics. 1961;27:967–70.Google Scholar
  137. 137.
    Schild RL, Plath H, Thomas P, Schulte-Wissermann H, Eis-Hubinger AM, Hansmann M. Fetal parvovirus B19 infection and meconium peritonitis. Fetal Diagn Ther. 1998;13:15–8.PubMedGoogle Scholar
  138. 138.
    Velaphi S, Reubenson G, Nakwa F. Meconium peritonitis and parvovirus B19 infection associated with hydrops fetalis. Ann Trop Paediatr. 2006;26:371–5.PubMedGoogle Scholar
  139. 139.
    Tibboel D, Gaillard JLJ, Molenaar JC. The importance of mesenteric vascular insufficiency in meconium peritonitis. Hum Pathol. 1986;17:411–6.PubMedGoogle Scholar
  140. 140.
    Dirkes K, Crombleholme TM, Craigo SD, et al. The natural history of meconium peritonitis diagnosed in utero. J Pediatr Surg. 1995;30:979–82.PubMedGoogle Scholar
  141. 141.
    Dudgeon DL, Coran AG, Lauppe FA, Hodgman JE, Rosenkrantz JG. Surgical management of acute necrotizing enterocolitis in infancy. J Pediatr Surg. 1973;8:607–14.PubMedGoogle Scholar
  142. 142.
    Maayan-Metzger A, Itzchak A, Mazkereth R, Kuint J. Necrotizing enterocolitis in full-term infants: case-control study and review of the literature. J Perinatol. 2004;24:494–9.PubMedGoogle Scholar
  143. 143.
    Corkery JJ, Dubowitz V, Lister J, Moosa A. Colonic perforation after exchange transfusion. Br Med J. 1968;II:345–9.Google Scholar
  144. 144.
    Franz ID, L’Heureux P, Engel RR, Hunt CE. Necrotising enterocolitis. J Pediatr. 1975;86:259–63.Google Scholar
  145. 145.
    Gibbs K, Lin J, Holzman IR. Necrotizing enterocolitis: the state of science. Indian J Pediatr. 2007;74:67–72.PubMedGoogle Scholar
  146. 146.
    Nanthakumar N, Fusunyan RD, Sanderson I, Walker WA. Inflammation in the developing human intestine: a possible pathophysiologic contribution to necrotizing enterocolitis. Proc Natl Acad Sci U S A. 2000;97:6043–8.PubMedPubMedCentralGoogle Scholar
  147. 147.
    Thompson AM, Bizzarro MJ. Necrotizing enterocolitis in newborns: pathogenesis, prevention and management. Drugs. 2008;68:1227–38.PubMedGoogle Scholar
  148. 148.
    Hsueh W, Caplan MS, Qu X-W, et al. Neonatal necrotizing enterocolitis: clinical considerations and pathogenic concepts. Pediatr Dev Pathol. 2002;6:6–23.PubMedGoogle Scholar
  149. 149.
    Yrdakok M. What next in necrotizing enterocolitis? Turk J Pediatr. 2008;50:1–11.Google Scholar
  150. 150.
    Antonioli DA. Colitis in infants and children. In: Dahms BB, Qualman SJ, editors. Perspectives in pediatric pathology, vol. 20. Basel: Karger; 1997. p. 77–110.Google Scholar
  151. 151.
    Nanthakumar N, Meng D, Goldstein AM, Zu W, Lu L, Uauy R, et al. The mechanism of excessive intestinal inflammation in necrotizing enterocolitis: an immature innate immune response. PLoS One. 2011;6:e17776. http://researchonline.lshtm.ac.uk/806.PubMedPubMedCentralGoogle Scholar
  152. 152.
    Ren Y, Lin CL, Li Z, et al. Upregulation of macrophage migration inhibitory factor in infants with acute neonatal necrotizing enterocolitis. Histopathology. 2005;46:659–67.PubMedGoogle Scholar
  153. 153.
    Kelly N, Friend K, Boyle P, et al. The role of the glutathione antioxidant system in gut barrier failure in a rodent model of experimental necrotizing enterocolitis. Surgery. 2004;136:557–66.PubMedGoogle Scholar
  154. 154.
    Clark JA, Lane RH, Maclennan, et al. Epidermal growth factor reduces intestinal apoptosis in an experimental model of necrotizing enterocolitis. Am J Physiol Gastrointest Liver Physiol. 2004;288:G755–62.PubMedGoogle Scholar
  155. 155.
    Faix RG, Adams JT. Neonatal necrotizing enterocolitis: current concepts and controversies. Adv Pediatr Infect Dis. 1994;9:1–36.PubMedGoogle Scholar
  156. 156.
    Lin HC, Su BH, Chen AC, et al. Oral probiotics reduce the incidence and severity of necrotizing enterocolitis in very low birth weight infants. Pediatrics. 2005;115:1–4.PubMedGoogle Scholar
  157. 157.
    Marchildon MB, Buck BE, Abdenour G. Necrotising enterocolitis in the unfed infant. J Pediatr Surg. 1982;17:620–3.PubMedGoogle Scholar
  158. 158.
    Mizrahi A, Barlow O, Berdon W, Blanc WA, Silverman WA. Necrotising enterocolitis in premature infants. J Pediatr. 1965;66:697–706.PubMedGoogle Scholar
  159. 159.
    Stevenson JK, Graham CB, Oliver TK, Goldenberg VE. Neonatal necrotizing enterocolitis – a report of twenty-one cases with fourteen survivors. Am J Surg. 1969;118:260–72.PubMedGoogle Scholar
  160. 160.
    Santulli TV, Schullinger JN, Heird WC, et al. Acute necrotising enterocolitis in infancy: a review of 64 cases. Pediatrics. 1975;55:376–87.PubMedGoogle Scholar
  161. 161.
    Bax NMA, Pearse RG, Dommering N, Molenaar JC. Perforation of the appendix in the neonatal period. J Pediatr Surg. 1980;15:200–2.PubMedGoogle Scholar
  162. 162.
    Lloyd JR. The etiology of gastrointestinal perforations in the newborn. J Pediatr Surg. 1969;4:77–84.PubMedGoogle Scholar
  163. 163.
    Blakely ML, Lally KP, McDonald S, et al. Postoperative outcomes of extremely low birth-weight infants with necrotizing enterocolitis or isolated intestinal perforation: a prospective cohort study by the NICHD Neonatal Research Network. Ann Surg. 2005;241:984–9.PubMedPubMedCentralGoogle Scholar
  164. 164.
    Attridge JT, Clark R, Walker MW, Gordon PV. New insights into spontaneous intestinal perforation using a national data set: (1) SIP is associated with early indomethacin exposure. J Perinatol. 2006;26:93–9.PubMedGoogle Scholar
  165. 165.
    Drewett MS, Burge DM. Recurrent neonatal gastro-intestinal problems after spontaneous intestinal perforation. Pediatr Surg Int. 2007;23:1081–4.PubMedGoogle Scholar
  166. 166.
    Pumberger W, Mayr M, Kohlhauser C, Weninger M. Spontaneous localized intestinal perforation in very low birth weights infants: a distinct clinical entity different from necrotizing enterocolitis. J Am Coll Surg. 2002;195:796–803.PubMedGoogle Scholar
  167. 167.
    Oretti C, Bussani R, Janes A, Demarini S. Multiple segmental absence of intestinal musculature presenting as spontaneous isolated perforation in an extremely low-birth-weight infant. J Pediatr Surg. 2010;45:E25–7.PubMedGoogle Scholar
  168. 168.
    Ng PC, Brownlee KG, Dear PR. Gastroduodenal perforation in preterm babies treated with dexamethasone for bronchopulmonary dysplasia. Arch Dis Child. 1991;66:1164–6.PubMedPubMedCentralGoogle Scholar
  169. 169.
    Stark AR, Carlo WA, Tyson JE, Papile L, Wright LL, Shankaran S, et al. Adverse effects of early dexamethasone treatment in extremely low birth weight infants. N Engl J Med. 2001;344:95–101.PubMedGoogle Scholar
  170. 170.
    Sharma R, Hudak ML, Tepas JJ, Wludyka PS, Teng R, Hastings LK, et al. Prenatal or postnatal indomethacin exposure and neonatal gut injury associated with isolated intestinal perforation and necrotizing enterocolitis. J Perinatol. 2010;30:786–93.PubMedGoogle Scholar
  171. 171.
    Chan, KYY, Leung FWL, Lam HS, Tam YH, To KF, Cheung HM, et al. Immunoregulatory protein profiles of necrotizing enterocolitis versus spontaneous intestinal perforation in preterm infants. 2012. www.plosone.org
  172. 172.
    Izraeli S, Freud E, Mor C, Litwin A, Zer M, Merlob P. Neonatal intestinal perforation due to congenital defects in the intestinal muscularis. Eur J Pediatr. 1992;151:300–3.PubMedGoogle Scholar
  173. 173.
    Resch B, Mayr J, Kuttnig-Harm M, et al. Spontaneous gastrointestinal perforation in very low birth weight infants – a rare complication in a neonatal intensive care unit. Pediatr Surg Int. 1998;13:165–7.PubMedGoogle Scholar
  174. 174.
    Rothschild HB, Storck A, Myers B. Mesenteric occlusion in a newborn infant. J Pediatr. 1953;43:569–72.PubMedGoogle Scholar
  175. 175.
    Cochran WD, Davis HT, Smith CS. Advantages and complications of umbilical artery catheterization in the newborn. Pediatrics. 1968;42:769–77.PubMedGoogle Scholar
  176. 176.
    Neal WA, Reynolds JW, Jarvis CW, Williams HJ. Umbilical artery catheterisation: demonstration of arterial thrombosis by aortography. Pediatrics. 1972;50:6–13.PubMedGoogle Scholar
  177. 177.
    Lister J, Rickham PP. Hirschsprung’s disease. In: Rickham PP, Lister J, Irving IM, editors. Neonatal surgery. 2nd ed. London: Butterworths; 1980. p. 441–55.Google Scholar
  178. 178.
    Martin LW, Perrin EV. Neonatal perforation of the appendix in association with Hirschsprung’s disease. Ann Surg. 1967;166:799–802.PubMedPubMedCentralGoogle Scholar
  179. 179.
    Engum SA, Petrites M, Rescorla J, et al. Familial Hirschsprung’s disease: 20 cases in 12 kindreds. J Pediatr Surg. 1993;28:1286–90.PubMedGoogle Scholar
  180. 180.
    Hackam DJ, Reblock KK, Redlinger RE, Barksdale Jr EM. Diagnosis and outcome of Hirschsprung’s disease: does age really matter? Pediatr Surg Int. 2004;20:319–22.PubMedGoogle Scholar
  181. 181.
    Puri P, Shinkai T. Pathogenesis of Hirschsprung’s disease and its variants: recent progress. Semin Pediatr Surg. 2004;13:18–24.PubMedGoogle Scholar
  182. 182.
    Amiel J, Lyonnet S. Hirschsprung’s disease, associated syndromes and genetics: a review. J Med Genet. 2001;38:729–39.PubMedPubMedCentralGoogle Scholar
  183. 183.
    Sarioglu A, Tanyel FC, Buyukpamukcu N, Hicsommez A. Hirschsprung-associated congenital anomalies. Eur J Pediatr Surg. 1997;7:331–7.PubMedGoogle Scholar
  184. 184.
    Wallace AS, Anderson RB. Genetic interactions and modifier genes in Hirschsprung’s disease. World J Gastroenterol. 2001;17:4937–44.Google Scholar
  185. 185.
    Sullivan PB. Hirschsprung’s disease. Arch Dis Child. 1996;74:5–7.PubMedPubMedCentralGoogle Scholar
  186. 186.
    Qualman SJ, Pysher T, Schauer G. Hirschsprung’s disease: differential diagnosis and sequelae. In: Dahms BB, Qualman SJ, editors. Perspectives in pediatric pathology, vol. 20. Basel: Karger; 1997. p. 111–26.Google Scholar
  187. 187.
    Parisi MA, Kapur RP. Genetics of Hirschsprung disease. Curr Opin Pediatr. 2000;12:610–7.PubMedGoogle Scholar
  188. 188.
    Maka M, Stolt CC, Wegner M. Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect. Dev Biol. 2005;277:155–69.PubMedGoogle Scholar
  189. 189.
    Borrego S, Ruiz-Ferrer M, Fernandez RM, Antinolo G. Hirschsprung’s disease as a model of complex genetic etiology. Histol Histopathol. 2013;28:117–36.Google Scholar
  190. 190.
    Pan Z, Li J. Advances in molecular genetics of Hirschsprung’s disease. Anat Rec. 2012;295:1628–38.Google Scholar
  191. 191.
    Butler NE, Trainor PA. The developmental etiology and pathogenesis of Hirschsprung’s disease. Transl Res. 2013;62:1–15.Google Scholar
  192. 192.
    Moore SW. Total colonic aganglionosis in Hirschsprung’s disease. Semin Pediatr Surg. 2012;21:302–9.PubMedGoogle Scholar
  193. 193.
    Fujimoto T, Hata J, Yokoyama S, Mitomi T. A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung’s disease. J Pediatr Surg. 1989;24:550–6.PubMedGoogle Scholar
  194. 194.
    Parikh DH, Tam PKH, Lloyd DA, van Velzen D, Edgar DH. Quantitative and qualitative analysis of the extracellular matrix protein, laminin, in Hirschsprung’s disease. J Pediatr Surg. 1992;27:991–6.PubMedGoogle Scholar
  195. 195.
    Haricharan RN, Georgeson KE. Hirschsprung’s disease. Semin Pediatr Surg. 2008;17:266–75.PubMedGoogle Scholar
  196. 196.
    Neilson IR, Yazbeck S. Ultrashort Hirschsprung’s disease: myth or reality. J Pediatr Surg. 1990;25:1135–8.PubMedGoogle Scholar
  197. 197.
    Ballard ET. Ultrashort segment Hirschsprung’s disease: a case report. Pediatr Pathol Lab Med. 1996;16:319–25.PubMedGoogle Scholar
  198. 198.
    Garrett JR, Howard ER, Nixon HH. Autonomic nerves in rectum and colon in Hirschsprung’s disease. A cholinesterase and catecholamine histochemical study. Arch Dis Child. 1969;44:406–17.PubMedPubMedCentralGoogle Scholar
  199. 199.
    Kapur RP. Practical pathology of Hirschsprung’s disease. 2011. www.pnwsp.org/fall2011/handouts/kapur.pdf
  200. 200.
    Weinberg AG. Hirschsprung’s disease – a pathologist’s view. In: Rosenberg HS, Bolande RP, editors. Perspectives in pediatric pathology, vol. 2. Chicago: Year Book Medical Publishers; 1975. p. 207–39.Google Scholar
  201. 201.
    Kapur RP, Kennedy AJ. Histopathologic delineation of the transition zone in short segment Hirschsprung’s disease. Pediatr Dev Pathol. 2013;16:252–66.PubMedGoogle Scholar
  202. 202.
    Collins MH, Reyes-Mugica M. Defining the transition zone of Hirschsprung’s disease. Pediatr Dev Pathol. 2013;16:235–6.PubMedGoogle Scholar
  203. 203.
    Yin H, Todd B, Pacheco MC, Schonfeld D, Bove KE. Rectal biopsy in children with Down syndrome and chronic constipation: Hirschsprung’s disease vs non-Hirschsprung’s disease. Pediatr Dev Pathol. 2012;15:87–95.PubMedGoogle Scholar
  204. 204.
    Qualman SJ, Jaffe R, Bove KE, Monforte-Munoz H. Diagnosis of Hirschsprung’s disease using the rectal biopsy: multi-institutional survey. Pediatr Dev Pathol. 1999;2:588–96.PubMedGoogle Scholar
  205. 205.
    Qualman SJ, Murray R. Aganglionosis and related disorders. Hum Pathol. 1994;25:1141–9.PubMedGoogle Scholar
  206. 206.
    Huntley CC, Shaffner L, Challa VR, Lyerly AD. Histochemical diagnosis of Hirschsprung disease. Pediatrics. 1982;69:775–61.Google Scholar
  207. 207.
    Goto S, Ikeda K, Toyohara T. Histochemical confirmation of the Acetylcholinesterase-activity in rectal suction biopsy from neonates with Hirschsprung’s disease. Z Kinderchir. 1984;39:246–9.PubMedGoogle Scholar
  208. 208.
    Pacheco MC, Bove KE. Variability of Acetylcholinesterase hyperinnervation patterns in distal rectal suction biopsy specimens in Hirschsprung’s disease. Pediatr Dev Pathol. 2008;11:274–82.PubMedGoogle Scholar
  209. 209.
    Barr LC, Booth J, Filipe MI, Lawson JON. Clinical evaluation of the histochemical diagnosis of Hirschsprung’s disease. Gut. 1985;26:393–9.PubMedPubMedCentralGoogle Scholar
  210. 210.
    Kapur RP, Reed RC, Finn LS, Patterson K, Johanson J, Rutledge JC. Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung’s disease. Pediatr Dev Pathol. 2013;12:6–15.Google Scholar
  211. 211.
    Kapur RP. Calretinin-immunoreactive mucosal innervation in very short segment Hirschsprung’s disease: a potentially misleading observation. Pediatr Dev Pathol. 2014;17:28–35.PubMedGoogle Scholar
  212. 212.
    Elhalaby EA, Coran AG, Blane CE, et al. Enterocolitis associated with Hirschsprung’s disease: a clinical-radiological characterization based on 168 patients. J Pediatr Surg. 1995;30:76–83.PubMedGoogle Scholar
  213. 213.
    Carneiro PMR, Brereton RJ, Drake DP, Kiely EM, Spitz L, Turnock R. Enterocolitis in Hirschsprung’s disease. Pediatr Surg Int. 1992;7:356–60.Google Scholar
  214. 214.
    Frykman PK, Short SS. Hirschsprung-associated enterocolitis: prevention and therapy. Semin Pediatr Surg. 2012;21:328–35.PubMedPubMedCentralGoogle Scholar
  215. 215.
    Teitelbaum DH, Caniano DA, Qualman SJ. The pathophysiology of Hirschsprung’s-associated enterocolitis: importance of histologic correlates. J Pediatr Surg. 1989;24:1271–7.PubMedGoogle Scholar
  216. 216.
    Brearly S, Armstrong GR, Nairn R, et al. Pseudomembranous colitis: a lethal complication of Hirschsprung’s disease unrelated to antibiotic usage. J Pediatr Surg. 1987;22:257–9.PubMedGoogle Scholar
  217. 217.
    Teich S, Schisgall RM, Anderson KD. Ischemic enterocolitis as a complication of Hirschsprung’s disease. J Pediatr Surg. 1986;21:143–5.PubMedGoogle Scholar
  218. 218.
    Bill AH, Chapman ND. The enterocolitis of Hirschsprung’s disease. Am J Surg. 1962;103:70–4.Google Scholar
  219. 219.
    Berry CL, Fraser GC. The experimental production of colitis in the rabbit with particular reference to Hirschsprung’s disease. J Pediatr Surg. 1968;3:36–42.Google Scholar
  220. 220.
    Thomas DFM, Fernie DS, Bayston R, Spitz L, Nixon HH. Enterocolitis in Hirschsprung’s disease: a controlled study of the etiologic role of Clostridium difficile. J Pediatr Surg. 1986;21:22–5.PubMedGoogle Scholar
  221. 221.
    Murphy F, Puri P. New insights into the pathogenesis of Hirschsprung’s-associated enterocolitis. Pediatr Surg Int. 2005;21:773–9.PubMedGoogle Scholar
  222. 222.
    Rossi V, Avanzini S, Mosconi M, Mattioli G, Buffa P, Jasonni V, et al. Hirschsprung associated enterocolitis. J Gastrointest Dig Syst. 2014;4:170.Google Scholar
  223. 223.
    Meier-Ruge W. Hirschsprung’s disease: its aetiology, pathogenesis and differential diagnosis. Curr Top Pathol. 1974;59:131–79.PubMedGoogle Scholar
  224. 224.
    Schimpl G, Uray E, Ratschek M, Hollwarth ME. Constipation and intestinal neuronal dysplasia type B: a clinical follow-up study. J Pediatr Gastroenterol Nutr. 2004;38:308–11.PubMedGoogle Scholar
  225. 225.
    Dickson JAS, Variend S. Colonic neuronal dysplasia. Acta Paediatr Scand. 1983;72:635–7.PubMedGoogle Scholar
  226. 226.
    Scharli AF, Meier-Ruge W. Localized and disseminated forms of neuronal intestinal dysplasia mimicking Hirschsprung’s disease. J Pediatr Surg. 1981;16:164–70.PubMedGoogle Scholar
  227. 227.
    Kapur RP. Neuropathology of paediatric chronic intestinal pseudo-obstruction and related animal models. J Pathol. 2001;194:277–88.PubMedGoogle Scholar
  228. 228.
    Kapur RP. Neuronal dysplasia: a controversial pathological correlate of intestinal pseudo-obstruction. Am J Med Genet. 2003;122:287–93.Google Scholar
  229. 229.
    Wiswell TE, Rawlings JS, Wilson JL, Pettett G. Megacystis–microcolon–intestinal hypoperistalsis syndrome. Pediatrics. 1979;63:805–8.PubMedGoogle Scholar
  230. 230.
    Gosemann JH, Puri P. Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int. 2011;27:1041–6.PubMedGoogle Scholar
  231. 231.
    McLaughlin D, Puri P. Familial megacystis–microcolon–intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int. 2013;29:947–51.Google Scholar
  232. 232.
    Puri P, Lake BD, Gorman F, O’Donnell B, Nixon HH. Megacystis–microcolon–intestinal hypoperistalsis syndrome: a visceral myopathy. J Pediatr Surg. 1983;18:64–9.PubMedGoogle Scholar
  233. 233.
    Srikanth MS, Ford EG, Isaacs Jr H, Mahour H. Megacystis microcolon intestinal hypoperistalsis syndrome: late sequelae and possible pathogenesis. J Pediatr Surg. 1993;28:957–9.PubMedGoogle Scholar
  234. 234.
    Smith VV, Milla PJ. Histological phenotypes of enteric smooth muscle disease causing functional intestinal obstruction in childhood. Histopathology. 1997;31:112–22.PubMedGoogle Scholar
  235. 235.
    Partridge JP, Gough MH. Congenital abnormalities of the anus and rectum. Br J Surg. 1961;49:37–49.PubMedGoogle Scholar
  236. 236.
    Levitt MA, Pena A. Anorectal malformations: review. Orphanet J Rare Dis. 2007;2:33.PubMedPubMedCentralGoogle Scholar
  237. 237.
    Holschneider AM, Hutson JM, editors. Anorectal malformations in children: embryology, diagnosis, surgical treatment, follow-up. Berlin: Springer; 2006.Google Scholar
  238. 238.
    Stephens FD, Durham Smith E. Classification, identification and assessment of surgical treatment of anorectal anomalies. Pediatr Surg Int. 1986;1:200–5.Google Scholar
  239. 239.
    Gough MH. Congenital abnormalities of the anus and rectum. Arch Dis Child. 1961;36:146–51.PubMedPubMedCentralGoogle Scholar
  240. 240.
    Durham Smith E. Urinary anomalies and complications in imperforate anus and rectum. J Pediatr Surg. 1968;3:337–49.Google Scholar
  241. 241.
    Stocker JT, Heifetz SA. Sirenomelia. A morphological study of 33 cases and review of the literature. Perspect Pediatr Pathol. 1987;10:7–50.PubMedGoogle Scholar
  242. 242.
    van der Putte SCJ. Normal and abnormal development of the anorectum. J Pediatr Surg. 1986;21:434–40.PubMedGoogle Scholar
  243. 243.
    McFadden DE, Pantzar JT. Genital system. In: Dimmick JE, Kalousek DK, editors. Developmental pathology of the embryo and fetus. Philadelphia: J B Lippincott Company; 1992. p. 605–24.Google Scholar
  244. 244.
    Siebert JR, Rutledge JC, Kapur RP. Association of cloacal anomalies, caudal duplication and twinning. Pediatr Dev Pathol. 2005;8:339–54.PubMedGoogle Scholar
  245. 245.
    Coffin CM, Pappin AL. Polyps and neoplasms of the gastrointestinal tract in childhood and adolescence. In: Dahms BB, Qualman SJ, editors. Perspectives in paediatric pathology, vol. 20. Basel: Karger; 1997. p. 127–71.Google Scholar
  246. 246.
    Lake BD. Metabolic disorders: general considerations. In: Berry CL, editor. Pediatr path. Berlin, Heidelberg, New York: Springer; 1981. p. 617–39.Google Scholar
  247. 247.
    Hershenson MB, Brouillette RT, Klemka L, et al. Respiratory insufficiency in newborns with abdominal wall defects. J Pediatr Surg. 1985;20:348–53.PubMedGoogle Scholar
  248. 248.
    Boyd PA, Bhattacharjee A, Gould S, Manning N, Chamberlain P. Outcome of prenatally diagnosed anterior abdominal wall defects. Arch Dis Child. 1998;78:F209–13.Google Scholar
  249. 249.
    St-Vil D, Shaw KS, Lallier M, Yazbeck S, Di Lorenzo M. Chromosomal anomalies in newborns with omphalocele. J Pediatr Surg. 1996;31:831–4.PubMedGoogle Scholar
  250. 250.
    Nyberg DA, Fitzsimmons J, Mack LA, et al. Chromosomal abnormalities in fetuses with omphalocele. J Ultrasound Med. 1989;8:299–308.PubMedGoogle Scholar
  251. 251.
    Benacerraf BR, Saltzman DH, Estroff JA, Frigoletto FD. Abnormal karyotype of fetuses with omphalocele: prediction based on omphalocele contents. Obstet Gynecol. 1990;75:317–9.PubMedGoogle Scholar
  252. 252.
    Aitken J. Exomphalos. Analysis of a 10 year series of 32 cases. Arch Dis Child. 1963;38:126–9.PubMedPubMedCentralGoogle Scholar
  253. 253.
    Greenwood RD, Rosenthal A, Nadas AS. Cardiovascular malformations associated with omphalocele. J Pediatr. 1974;85:818–21.PubMedGoogle Scholar
  254. 254.
    Mann L, Feguson-Smith MA, Desai M, Gibson AAM, Raine PAM. Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenat Diagn. 1984;4:427–35.PubMedGoogle Scholar
  255. 255.
    Nicolaides KH, Rodeck CH, Fosden CM. Rapid karyotyping in non-lethal fetal malformations. Lancet. 1986;I:283–7.Google Scholar
  256. 256.
    Nakayama DK, Harrison MR, Gross BH, et al. Management of the fetus with an abdominal wall defect. J Pediatr Surg. 1984;19:408–13.PubMedGoogle Scholar
  257. 257.
    deVries P. The pathogenesis of gastroschisis and omphalocele. J Pediatr Surg. 1980;15:245–51.PubMedGoogle Scholar
  258. 258.
    Hoyme HE, Higginbottom MC, Jones KL. The vascular pathogenesis of gastroschisis: intrauterine interruption of the omphalomesenteric artery. J Pediatr. 1981;98:228–31.PubMedGoogle Scholar
  259. 259.
    Suita S, Okamatsu T, Yamamoto T, et al. Changing profile of abdominal wall defects in Japan: results of a national survey. J Ped Surg. 2000;35:66–72.Google Scholar
  260. 260.
    Chabra S, Gleason CA. Gastroschisis: embryology, pathogenesis, epidemiology. NeoRev. 2005;6:e493–9.Google Scholar
  261. 261.
    Shaw A. The myth of gastroschisis. J Pediatr Surg. 1975;10:235–41.PubMedGoogle Scholar
  262. 262.
    King DR, Savrin R, Boles ET. Gastroschisis update. J Pediatr Surg. 1980;15:553–7.PubMedGoogle Scholar
  263. 263.
    Amoury RA, Ashcraft KW, Holder TM. Gastroschisis complicated by intestinal atresia. Surgery. 1977;82:373–81.PubMedGoogle Scholar
  264. 264.
    Higginbottom MC, Jones KL, Hall BD, Smith DW. The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr. 1979;95:544–9.PubMedGoogle Scholar
  265. 265.
    Miller ME, Graham JM, Higginbottom MC, Smith DW. Compression-related defects from early amnion rupture: evidence for mechanical teratogenesis. J Pediatr. 1981;98:292–7.PubMedGoogle Scholar
  266. 266.
    Hartwig NG, Vermeij-Keers CHR, deVries HE, Kagie M, Kragt H. Limb body wall malformation complex: an embryologic etiology? Hum Pathol. 1989;20:1071–7.PubMedGoogle Scholar
  267. 267.
    Kallen K, Castilla EE, Robert E, Mastriacovo P, Kallen B. OEIS complex: a population study. Am J Med Genet. 2000;92:62–8.PubMedGoogle Scholar
  268. 268.
    Smith NM, Chambers HM, Furness ME, Haan EA. The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs. J Med Genet. 1992;29:730–2.PubMedPubMedCentralGoogle Scholar
  269. 269.
    Wu JL, Fang KH, Yeh GP, Chou PH, Hsieh CT. Using color Doppler sonography to identify the perivesical umbilical arteries: a useful method in the prenatal diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex. J Ultrasound Med. 2004;23:1211–5.PubMedGoogle Scholar
  270. 270.
    Jones PG. Exomphalos (syn. omphalocele). A review of 45 cases. Arch Dis Child. 1963;38:180–7.PubMedPubMedCentralGoogle Scholar
  271. 271.
    Johnston JH, Penn IA. Exstrophy of the cloaca. Br J Urol. 1966;38:302–7.PubMedGoogle Scholar
  272. 272.
    Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg Gynecol Obstet. 1958;107:602.PubMedGoogle Scholar
  273. 273.
    Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome. Pediatrics. 1972;50:778–92.PubMedGoogle Scholar
  274. 274.
    Varras M, Anastasiadis A, Akrivis C, Gialelis J. Pentalogy of Cantrell in the human fetuses: a rare congenital malformation. OA Case Rep. 2013;2:143.Google Scholar
  275. 275.
    Avery ME, Fletcher BD, Williams RG. The lung and its disorders in the newborn infant. 4th ed. Philadelphia: Saunders; 1981.Google Scholar
  276. 276.
    Lin J, Durham MM, Ricketts R, Abramowsky CR, Steelman CK, Shehata BM. Hepatic pulmonary fusion: two cases with diaphragmatic hernia and one case with pentalogy of Cantrell. Fetal Pediatr Pathol. 2012;31:401–9.PubMedGoogle Scholar
  277. 277.
    Siebert JR, Beckwith JB. Left ventricular hypoplasia in congenital diaphragmatic hernia. J Pediatr Surg. 1984;19:567–71.PubMedGoogle Scholar
  278. 278.
    Thurlbeck WM. Respiratory system. In: Dimmick JE, Kalousek DK, editors. Developmental pathology of the embryo and fetus. Philadelphia: J B Lippincott Company; 1992. p. 437–66.Google Scholar
  279. 279.
    Longoni M, Russell MK, Pober BR. Molecular genetics of congenital diaphragmatic hernia. 2014. www.onlinelibrary.wiley.com/doi/10.1002/9780470015902.a0024313
  280. 280.
    Javid PJ, Jaksic T, Skarsgard ED, et al. Survival rate in congenital diaphragmatic hernia: the experience of the Canadian Neonatal Network. J Pediatr Surg. 2004;39:657–60.PubMedGoogle Scholar
  281. 281.
    Pokorny WJ, McGill CW, Harberg FJ. Morgagni hernias during infancy: presentation and associated anomalies. J Pediatr Surg. 1984;19:394–7.PubMedGoogle Scholar
  282. 282.
    Hill ID, Lebenthal E. Congenital abnormalities of the exocrine pancreas. The pancreas: biology, pathobiology and disease. 2nd ed. New York: Raven Press, Ltd; 1993.Google Scholar
  283. 283.
    Cotton PB. Congenital anomaly of pancreas divisum as cause of obstructive pain and pancreatitis. Gut. 1980;21:105–14.PubMedPubMedCentralGoogle Scholar
  284. 284.
    Morrell MT, Keynes M. Annular pancreas. In: Keynes WM, Keith RG, editors. The pancreas. London: Heinemann; 1981. p. 159–68.Google Scholar
  285. 285.
    Jackson JM. Annular pancreas and duodenal obstruction in the neonate. A review. Arch Surg. 1963;87:379–83.PubMedGoogle Scholar
  286. 286.
    Tan HL, Yoong A, Yu CCW. Ectopic pancreatic rests: a rare cause of persistent umbilical discharge. Ped Surg Int. 2000;16:116–7.Google Scholar
  287. 287.
    Rohde RA, Hodgman JE, Cleland RS. Multiple congenital anomalies in the E1- trisomy (group 16–18) syndrome. Pediatrics. 1964;33:258–70.PubMedGoogle Scholar
  288. 288.
    Hashida Y, Jaffe R, Yunis EJ. Pancreatic pathology in trisomy 13: specificity of the morphologic lesion. Pediatr Pathol. 1983;1:169–78.PubMedGoogle Scholar
  289. 289.
    Elliott K, Knight J. Size at birth. Ciba Found Symp. 1974;27:202–3.Google Scholar
  290. 290.
    Lemons JA, Ridenour R, Orsini EN. Congenital absence of the pancreas and intrauterine growth retardation. Pediatrics. 1979;64:255–7.PubMedGoogle Scholar
  291. 291.
    Wallis C. Diagnosing cystic fibrosis: blood, sweat, and tears. Arch Dis Child. 1997;76:85–91.PubMedPubMedCentralGoogle Scholar
  292. 292.
    Picard E, Aviram M, Yahav Y, et al. Familial concordance of phenotype and microbial variation among siblings with CF. Pediatr Pulmonol. 2004;38:292–7.PubMedGoogle Scholar
  293. 293.
    Oppenheimer EH, Esterly JR. Pathology of cystic fibrosis. Review of literature and comparison with 146 autopsied cases. In: Rosenberg HS, Bolande RP, editors. Perspectives in pediatric pathology, vol. 2. Chicago: Year Book Medical Publishers; 1975. p. 241–78.Google Scholar
  294. 294.
    Blisard KS, Barton SA. Neonatal haemochromatosis. Hum Pathol. 1986;17:376–83.PubMedGoogle Scholar
  295. 295.
    Jaffe R. The pancreas. In: Wigglesworth JS, Singer DB, editors. Fetal and perinatal pathology, vol. 2. Boston: Blackwell Scientific Publications; 1991. p. 1021–55.Google Scholar
  296. 296.
    Gentimi FE, Papandreou E, Tzovaras AA, Antoniou D. Pancreatic cystic lesion in an infant. J Indian Assoc Pediatr Surg. 2011;16:72–4.PubMedPubMedCentralGoogle Scholar
  297. 297.
    Dimmick JE, Hardwich DF. Gastrointestinal system and exocrine pancreas. In: Dimmick JE, Klousek DK, editors. Developmental pathology of the embryo and fetus. Philadelphia: J B Lippincott Company; 1992. p. 509–44.Google Scholar
  298. 298.
    Balci S, Bostanoglu S, Altinok G, Ozaltin. Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia and cysts. Am J Med Genet. 1999;82:166–9.PubMedGoogle Scholar
  299. 299.
    Balci S, Bostanoglu S, Altinok G, Ozaltin F. Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia and cysts. Am J Med Genet. 2000;90:185–7.PubMedGoogle Scholar
  300. 300.
    Cruickshank AH. Pathology of the pancreas. Berlin, Heidelberg, New York: Springer; 1986.Google Scholar

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© Springer International Publishing 2015

Authors and Affiliations

  1. 1.Department of HistopathologyGreat Ormond Street HospitalLondonUK

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