digestive system abnormalities


Summary: Congenital structural abnormalities of the DIGESTIVE SYSTEM.

Top Publications

  1. Cohen Z, Kleiner O, Finaly R, Mordehai J, Newman N, Kurtzbart E, et al. How much of a misnomer is "asymptomatic" intestinal malrotation?. Isr Med Assoc J. 2003;5:172-4 pubmed
  2. Kuo H, Lee H, Shin C, Sheu J, Chang P, Wang N. Clinical spectrum of alimentary tract duplication in children. Acta Paediatr Taiwan. 2004;45:85-8 pubmed
    ..The outcome was good, except in 2 patients, 1 of whom died of a perforation of the sigmoid colon duplication, and another who was complicated with multiple congenital anomalies...
  3. Craigie R, Abbaraju J, Ba ath M, Turnock R, Baillie C. Anorectal malformation with tubular hindgut duplication. J Pediatr Surg. 2006;41:e31-4 pubmed
    ..Surgical options at time of presentation and of reconstructive surgery are discussed. A review and suggested modification of the classifications is presented. ..
  4. Lee S, Kim H, Jung S, Lee S, Park K, Kim W. Situs anomalies and gastrointestinal abnormalities. J Pediatr Surg. 2006;41:1237-42 pubmed
    ..The aim of the study was to review the gastrointestinal abnormalities occurring in association with situs anomalies...
  5. Davies M, Creighton S, Wilcox D. Long-term outcomes of anorectal malformations. Pediatr Surg Int. 2004;20:567-72 pubmed
    ..More detailed information on long-term outcomes is needed in these patients to facilitate informed decision-making by the primary physician (usually the paediatric surgeon) and the parents on behalf of their child...
  6. Shaul D, Monforte H, Levitt M, Hong A, Pena A. Surgical management of perineal masses in patients with anorectal malformations. J Pediatr Surg. 2005;40:188-91 pubmed
    ..The aim of this study was to review the outcome of surgical management of various types of perineal masses encountered in patients with anorectal malformations (ARM)...
  7. Malek M, Burd R. The optimal management of malrotation diagnosed after infancy: a decision analysis. Am J Surg. 2006;191:45-51 pubmed
    ..The purpose of this study was to determine the role of the Ladd's procedure in patients with asymptomatic malrotation diagnosed after infancy...
  8. Song M, Jun D, Kim S, Lee H, Jo Y, Park Y. Recurrent duodenal ulcer and cholangitis associated with ectopic opening of bile duct in the duodenal bulb. Gastrointest Endosc. 2007;65:324-5; discussion 325 pubmed
  9. Li Y, Litingtung Y, Ten Dijke P, Chiang C. Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia. Dev Dyn. 2007;236:746-54 pubmed
    ..Notably, ablating Bmp7 function in Nog(-/-) embryos rescued EA/TEF and notochord branching defects, establishing a critical role of Noggin-mediated Bmp7 antagonism in EA/TEF pathogenesis...

More Information

Publications152 found, 100 shown here

  1. Hartin C, Lau S, Escobar M, Glick P. Laparoscopic excision of a newborn rectal duplication cyst. J Pediatr Surg. 2008;43:1572-4 pubmed publisher
    ..Complications include symptoms arising from the cyst and the possibility of malignant degeneration. They are typically managed by surgical excision...
  2. Choi M, Borenstein S, Hornberger L, Langer J. Heterotaxia syndrome: the role of screening for intestinal rotation abnormalities. Arch Dis Child. 2005;90:813-5 pubmed
    ..Most authors recommend routine radiological evaluation, with laparotomy and Ladd procedure if a rotation abnormality is found...
  3. Wester T, Rintala R. Perineal lipomas associated with anorectal malformations. Pediatr Surg Int. 2006;22:979-81 pubmed
    ..Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions...
  4. Keshtgar A, Athanasakos E, Clayden G, Ward H. Evaluation of outcome of anorectal anomaly in childhood: the role of anorectal manometry and endosonography. Pediatr Surg Int. 2008;24:885-92 pubmed publisher
    ..The IAS is a vital component in functional outcome in absence of neuropathy and megarectum. ..
  5. Julia V, Tarrado X, Prat J, Saura L, Montaner A, Castañón M, et al. Fifteen years of experience in the treatment of anorectal malformations. Pediatr Surg Int. 2010;26:145-9 pubmed publisher
    ..Overall, continence is good, and fair/poor results are related to associated malformations. Cumulative experience helps avoid colostomies and reduce complication and reoperation rates. ..
  6. Kluth D, Jaeschke Melli S, Fiegel H. The embryology of gut rotation. Semin Pediatr Surg. 2003;12:275-9 pubmed
    ..Therefore, in the second part of this review scanning electron microscopy pictures of the developing midgut are presented in a series of rat embryos. In these pictures clear signs of a process of rotation are missing. ..
  7. Agarwal A, Das S, Das S, Ghosh D, Agarwa A. Scenario of neonatal surgery in West Bengal with reference to cases of anorectal malformation. Indian J Pediatr. 2009;76:511-2 pubmed publisher
    ..We focus on the plight of a child not able to reach the level III health care system with a pediatric surgical back up and analyze the pros and cons with constructive criticism of the existing system. ..
  8. Sumida W, Kaneko K, Ogura Y, Tainaka T, Ono Y, Seo T, et al. Living donor liver transplantation for congenital absence of the portal vein in a child with cardiac failure. J Pediatr Surg. 2006;41:e9-e12 pubmed
    ..This is the first case of successful liver transplantation for CAPV with cardiac failure. ..
  9. Shirai O, Ohmiya N, Nakamura M, Honda W, Takenaka H, Hamajima E, et al. [Meckel's diverticulum and duplication of the alimentary tract]. Nihon Rinsho. 2008;66:1343-9 pubmed
    ..This report describes and compared the clinical aspects of Meckel's diverticulum and duplication of the alimentary tract, which were experienced at Nagoya University Hospital and Kariya Toyota General Hospital. ..
  10. Carlotti A, Carvalho W. Abdominal compartment syndrome: A review. Pediatr Crit Care Med. 2009;10:115-20 pubmed publisher
    ..A widespread awareness of the recognition and current approach to management and prevention of IAH and ACS is needed among pediatric intensivists, so outcome of these life-threatening disease processes might be improved. ..
  11. Yang W, Guan Y, Pan Z, Chen K. [Gastric duplication in adult--a case report]. Zhonghua Yi Xue Za Zhi. 2004;84:1848 pubmed
  12. Gupta A, Guglani B. Imaging of congenital anomalies of the gastrointestinal tract. Indian J Pediatr. 2005;72:403-14 pubmed
    ..It is important to be familiar with the role nad usefulness of the various imaging modalities so that these can be used judiciously to avoid unnecessary radiation exposure while minimizing the patient discomfort. ..
  13. Vaos G, Misiakos E. Congenital anomalies of the gastrointestinal tract diagnosed in adulthood--diagnosis and management. J Gastrointest Surg. 2010;14:916-25 pubmed publisher
    ..Others may cause persistent problems in adulthood requiring medical management for years. Herein, we present a comprehensive review of all the different ways of diagnosis and management of these anomalies reported in the literature. ..
  14. Ngdeve N, Manchanda V, Sarin Y. Bronchopulmonary foregut malformation mimicking pseudocyst of pancreas. Indian J Pediatr. 2010;77:323-5 pubmed publisher
    ..Such an association has not been reported hitherto. ..
  15. Hashimoto M, Okuda C, Nagashima N, Nagao G, Matsuda M, Tsutsumi K, et al. Combined intrahepatic and extrahepatic biliary tree abnormality in the era of laparoscopic cholecystectomy. Surgery. 2004;135:355-6 pubmed
  16. Lee N, Gana R, Borer J, Estrada C, Khoshbin S, Bauer S. Urodynamic findings in patients with Currarino syndrome. J Urol. 2012;187:2195-200 pubmed publisher
    ..Although no solid conclusions could be drawn regarding urodynamic improvement postoperatively due to our small sample size, spinal cord detethering did not lessen ongoing voiding complaints in the study patients. ..
  17. Galán Gómez E, Sánchez E, Arias Castro S, Cardesa García J. Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome. Eur J Med Genet. 2007;50:144-8 pubmed
    ..The pathogenesis of this syndrome is most probably of blastogenetic origin mainly affecting midline developmental duodenal biliary pancreatic junction. ..
  18. Bettolli M, De Carli C, Jolin Dahel K, Bailey K, Khan H, Sweeney B, et al. Colonic dysmotility in postsurgical patients with Hirschsprung's disease. Potential significance of abnormalities in the interstitial cells of Cajal and the enteric nervous system. J Pediatr Surg. 2008;43:1433-8 pubmed publisher
    ..Collection of data from a much larger number of patients with poor clinical outcome will be necessary to determine the significance of this imbalance of ICC and innervation. ..
  19. Goldschmidt B, Lopes C, Moura M, Fasano D, Andrade M, Cysne L, et al. Agnathia and associated malformations in a male rhesus monkey. J Med Primatol. 2008;37:173-6 pubmed
    ..The craniofacial malformations may reflect incomplete separation of the first branchial arch into its maxillary and mandibular processes. The association between the craniofacial and other corporal anomalies is unclear. ..
  20. Fraser J, Aguayo P, Sharp S, Ostlie D, St Peter S. The role of laparoscopy in the management of malrotation. J Surg Res. 2009;156:80-2 pubmed publisher
    ..We encourage a low threshold for conversion to an open approach if there is any concern about volvulus/orientation. This may decrease morbidity for patients who are found at operation to have a low risk of recurrent volvulus. ..
  21. Morris G, Kennedy A, Cochran W. Small Bowel Congenital Anomalies: a Review and Update. Curr Gastroenterol Rep. 2016;18:16 pubmed publisher
    ..The congenital anomalies of the small intestine reviewed in this article include malrotation, Meckel's diverticulum, duodenal web, duodenal atresia, jejunoileal atresia, and duplications. ..
  22. Bako W, Marek A, Sikorska Wisniewska G, Liberek A, Raczkowska Kozak J, Gora Gebka M, et al. [Short bowel syndrome in children - own experience]. Med Wieku Rozwoj. 2006;10:563-72 pubmed
    ..3. Lactic acidosis due to biotin deficiency must be considered if acid-base balance restoration is complicated in children with SBS. 4 Children with SBS after resection need long-term and multi specialistic medical care. ..
  23. Emoto K, Mukai M, Kawachi S, Kitagawa Y, Sakamoto M. Duplication of the digestive organs in the retroperitoneum: a case report with reference to the importance of a standardized nomenclature and definition. Pathol Int. 2011;61:430-4 pubmed publisher
    ..In this report, we propose that the term duplication should be uniformly used for all cases in the digestive organs, and that they may then be distinguished according to their mechanisms. ..
  24. Moore S, Zaahl M. Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease. J Pediatr Surg. 2009;44:1899-903 pubmed publisher
    ..Potential disease-related RET gene mutations include exon 17-21 genetic variations that suggest the possibility of disrupted downstream signaling pathways from vital gene recruitment sites as possible TCA contributing factors. ..
  25. Aydoseli A, Akcakaya M, Aras Y, Dolaş I, Yanar H, Sencer A. Anterior sacral meningocele in a patient with currarino syndrome as a cause of ileus. Br J Neurosurg. 2013;27:833-5 pubmed publisher
    ..The size of the cyst gradually reduced over time. A staged approach and the multidisciplinary management, with the collaboration of the general surgery and neurosurgery teams, provided a satisfactory clinical outcome. ..
  26. Torre M, Guida E, Bisio G, Scarsi P, Piatelli G, Cama A, et al. Risk factors for renal function impairment in a series of 502 patients born with spinal dysraphisms. J Pediatr Urol. 2011;7:39-43 pubmed publisher
    ..This study has increased our understanding of the prognostic risk factors for renal deterioration. More prospective studies are necessary to confirm these results and correlate treatment with renal outcome. ..
  27. Bandre E, Kaboré R, Ouedraogo I, Soré O, Tapsoba T, Bambara C, et al. Hirschsprung's disease: management problem in a developing country. Afr J Paediatr Surg. 2010;7:166-8 pubmed publisher
    ..Effective technical capacities, adequate staff training, and public education will be necessary to improve care quality. ..
  28. Carneiro F, de Nazareth Sobreira M, de Azevedo A, Alves A, Campos K. Colonic duplication in an adult mimicking a tumor of pancreas. World J Gastroenterol. 2008;14:966-8 pubmed
    ..The diagnosis was established based on the histopathological examination of the resected specimen. We concluded that, though uncommon, intestinal duplication should be considered in differential diagnosis of abdominal mass. ..
  29. Kapur R, Correa H. Architectural malformation of the muscularis propria as a cause for intestinal pseudo-obstruction: two cases and a review of the literature. Pediatr Dev Pathol. 2009;12:156-64 pubmed publisher
    ..The 2nd patient, an infant with multiple malformations, had diffuse abnormal layering of his small intestine. The rare reports of other individuals with similar pathological findings are discussed. ..
  30. van Rooij I, Wijers C, Rieu P, Hendriks H, Brouwers M, Knoers N, et al. Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study. Birth Defects Res A Clin Mol Teratol. 2010;88:152-8 pubmed publisher
    ..8, 342.8). This study revealed potential risk factors for ARM, including fever during pregnancy, maternal overweight, use of multivitamins, paternal smoking, and occupational exposures, but a familial component seems important as well. ..
  31. Guerin F, Podevin G, Petit T, Lopez M, De Lagausie P, Lardy H, et al. Outcome of alimentary tract duplications operated on by minimally invasive surgery: a retrospective multicenter study by the GECI (Groupe d'Etude en Coeliochirurgie Infantile). Surg Endosc. 2012;26:2848-55 pubmed
    ..This study showed that MIS for ATD is feasible with a low rate of complications. Patients with prenatal diagnosis should have prompt surgery to prevent symptoms, despite a high rate of conversion in small infants. ..
  32. Sawicka E, Michalak J, Ploska Urbanek B. [Advances in the treatment of newborns with congenital malformations]. Med Wieku Rozwoj. 2003;7:5-19 pubmed
  33. Pini Prato A, Martucciello G, Jasonni V. Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients. J Pediatr Surg. 2006;41:1043-8 pubmed
    ..Therefore, although Solo-RBT increases safety and reliability of RSBs, great attention should be paid when this procedure is performed in newborns and infants. ..
  34. Pitiakoudis M, Papanas N, Polychronidis A, Maltezos E, Prassopoulos P, Simopoulos C. Double gall-bladder--two pathologies: a case report. Acta Chir Belg. 2008;108:261-3 pubmed
    ..Predisposing factors for the development of gall-stones in one gall-bladder only, as well as surgical options, are briefly discussed. ..
  35. Isik N, Elmaci I, Gokben B, Balak N, Tosyali N. Currarino triad: surgical management and follow-up results of four [correction of three] cases. Pediatr Neurosurg. 2010;46:110-9 pubmed publisher
    ..Such approaches are performed easily by transdural ligation of the neck of the anterior sacral meningocele or through tumor excision. ..
  36. Watts J, Phillips E, Griffing K, Browse J. Deficiencies in C20 polyunsaturated fatty acids cause behavioral and developmental defects in Caenorhabditis elegans fat-3 mutants. Genetics. 2003;163:581-9 pubmed
    ..Similar epidermal tissue defects and slow growth are hallmarks of human fatty acid deficiency. ..
  37. Ratan S, Rattan K, Ratan J, Sodhi P, Bhatia V. A neonate with anorectal malformation with rare limb defects report of a case. Pediatr Surg Int. 2005;21:825-8 pubmed
  38. De Buys Roessingh A, Portier Marret N, Tercier S, Qanadli S, Joseph J. Combined endovascular and surgical recanalization after central venous catheter-related obstructions. J Pediatr Surg. 2008;43:E21-4 pubmed publisher
    ..Retrograde recanalization of the superior vena cava was successfully achieved using a pathway created under general anesthesia from the femoral vein to, respectively, the right thyroid vein and the right subclavian vein. ..
  39. Dumas J, Hill K, Adrezin R, Alba J, Curry R, Campagna E, et al. Feasibility of an electronic stethoscope system for monitoring neonatal bowel sounds. Conn Med. 2013;77:467-71 pubmed
    ..One limitation is noise interference. Our larger goals include producing a meaningful vital sign to characterize bowel sounds that can be produced in real-time, as well as providing automatic control for patient feeding pumps. ..
  40. Huang J, Cai W, Tang Q, Feng Y, Tao Y, Wang Y, et al. Long-term cognitive functions in neonatal short bowel syndrome patients. Eur J Pediatr Surg. 2008;18:89-92 pubmed publisher
    ..There was no evidence for a strong correlation between SBS and nutritional/cognition disorder. Longer term and controlled studies with a larger sample size are warranted. ..
  41. Wilson B, Etheridge C, Soundappan S, Holland A. Delayed diagnosis of anorectal malformations: are current guidelines sufficient?. J Paediatr Child Health. 2010;46:268-72 pubmed publisher
    ..Delayed diagnosis of an ARM appears to be common, occurring in approximately 32% of patients referred to our institution over the last 2.5 years. Current guidelines appear insufficient to ensure prompt diagnosis of ARM. ..
  42. Ben Ely A, Gorelik N, Cohen Sivan Y, Zissin R, Carpineta L, Osadchy A, et al. Appendicitis in adults with incidental midgut malrotation: CT findings. Clin Radiol. 2013;68:1212-9 pubmed publisher
    ..When CT shows focal inflammation anywhere within the abdomen, along with an abnormal SMA/SMV relationship, the position of the caecum should be ascertained and acute appendicitis ruled out. ..
  43. Yap D, Hassall J, Williams G, McKain E. Appendiceal mucocoele with midgut malrotation. Ann R Coll Surg Engl. 2016;98:e138-40 pubmed publisher
    ..Conclusions We report a patient with a combination of two rare conditions. This case illustrates how a combination of pathologies can present a challenge to the unwary general surgeon. ..
  44. Sarin Y, Manchanda V, Sharma A, Singhal A. Triplication of colon with diphallus and complete duplication of bladder and urethra. J Pediatr Surg. 2006;41:1924-6 pubmed
    ..Here, we describe a child with triplication of colon with associated duplication of bladder and urethra and diphallus. The child described here is the only reported survivor with triplication. ..
  45. Kluth D. Embryology of anorectal malformations. Semin Pediatr Surg. 2010;19:201-8 pubmed publisher
  46. Wang Y, Wu Y. A novel HLXB9 mutation in a Chinese family with Currarino syndrome. Eur J Pediatr Surg. 2012;22:243-5 pubmed publisher
  47. Hartman E, Oort F, Aronson D, Hanneman M, van der Zee D, Rieu P, et al. Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung's disease. Am J Gastroenterol. 2004;99:907-13 pubmed
    ..It appeared that psychosocial functioning had the most important effect on the quality of life of patients with ARM or Hirschsprung's disease, while fecal incontinence and constipation had almost no effect on their quality of life. ..
  48. Rygl M, Kalousova J, Snajdauf J, Rousková B, Stýblová J, Pycha K, et al. [Surgery of congenital defects--present trends]. Rozhl Chir. 2002;81:635-40 pubmed
  49. Seki M, Yanagisawa A, Ninomiya E, Ninomiya Y, Ohta H, Saiura A, et al. Clinicopathology of pancreaticobiliary maljunction: relationship between alterations in background biliary epithelium and neoplastic development. J Hepatobiliary Pancreat Surg. 2005;12:254-62 pubmed
  50. Ben Brahim E, Jouini R, Aboulkacem S, Jaouadi F, Labbene N, Cherif R, et al. [Gastric heterotopia: clinical and histological study of 12 cases]. Tunis Med. 2011;89:935-9 pubmed
    ..Diagnosis relies on histology, mainly on finding heterotopic fundic glands in normal organizational structure. Sometimes, differentiating between gastric heterotopia and gastric metaplasia requires clinical confrontation. ..
  51. Smoyer L, Dorer D, Nickerson K, Christensen A. Phenotype of the Triplo-lethal locus of Drosophila melanogaster and its suppression by hyperoxia. Genet Res. 2003;82:163-70 pubmed
    ..This is the first report of a phenotype associated with the Tpl locus and the first report of an environmental condition that suppresses the phenotype. ..
  52. Marcelis C, Hol F, Graham G, Rieu P, Kellermayer R, Meijer R, et al. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Hum Mutat. 2008;29:1125-32 pubmed publisher
    ..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis. ..
  53. Goulet O, Fusaro F, Lacaille F, Sauvat F. Permanent intestinal failure. Indian Pediatr. 2008;45:753-63 pubmed
    ..Timing for referral of patients in specialized centers remains a crucial issue. The main causes of IF are briefly reviewed emphasizing the medico-surgical strategy for prevention and care-provision, adapted to each type and stage of IF. ..
  54. Yoo H, Kim W, Cheon J, Yoo S, Park K, Jung S, et al. Congenital esophageal stenosis associated with esophageal atresia/tracheoesophageal fistula: clinical and radiologic features. Pediatr Radiol. 2010;40:1353-9 pubmed publisher
    ..Esophagography after EA/TEF repair should be performed with a high index of suspicion for the presence of distal CES, because the diagnosis and adequate management of CES can often be delayed. ..
  55. Lee Y, Kim K, Choi J, Lee B, Kim G, Yoo H. High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr. 2011;52:478-81 pubmed publisher
    ..Mutations in the PRSS1 and SPINK1 genes are highly associated with the development of childhood ARP or CP. Our findings suggest that patients with genetic mutations combined with pancreas divisum tend to develop CP early. ..
  56. Deftereos S, Soultanidis H, Limas C, Tsalkidis A, Gouliamtzi E, Manavis J. Duodenal duplication. Is ultrasound appearance enough to confirm the diagnosis?. Rom J Gastroenterol. 2004;13:345-7 pubmed
    ..We consider that when at US the sign of two-layer pattern is present there is no need for further radiological evaluation for alimentary tract duplication. ..
  57. Iso Y, Sawada T, Rokkaku K, Shimoda M, Kubota K. Ball-valve gastric tumor associated with anomalous junction of the pancreatico-biliary ductal system and a right-sided round ligament: report of a case. Surg Today. 2008;38:458-62 pubmed publisher
    ..We performed distal gastrectomy and cholecystectomy without biliary diversion. Microscopy revealed that the polypoid tumor was a hyperplastic polyp. ..
  58. Marin T, Strickland O. Transfusion-related necrotizing enterocolitis: a conceptual framework. Adv Neonatal Care. 2013;13:166-74 pubmed publisher
    ..In addition, incorporation of the proposed framework to guide future research and nursing care in this area is discussed. ..
  59. Montedonico S, Acevedo S, Fadda B. Clinical aspects of intestinal neuronal dysplasia. J Pediatr Surg. 2002;37:1772-4 pubmed
    ..9%, respectively; P <.05). Intestinal neuronal dysplasia is a distinct histopathologic and clinical entity. Its clinical, radiologic, and manometric presentation correlates to the severity of histochemical findings. ..
  60. Hajivassiliou C. Intestinal obstruction in neonatal/pediatric surgery. Semin Pediatr Surg. 2003;12:241-53 pubmed
    ..Newer treatments and future developments may reduce the residual mortality in such cases as ultrashort-bowel syndrome. ..
  61. Puri P. Intestinal neuronal dysplasia. Semin Pediatr Surg. 2003;12:259-64 pubmed
    ..This review describes in detail the diagnostic criteria of IND, staining techniques, correlation between histological findings and clinical symptoms, and management of IND. ..
  62. Penco J, Murillo J, Hernandez A, De La Calle Pato U, Masjoan D, Aceituno F. Anomalies of intestinal rotation and fixation: consequences of late diagnosis beyond two years of age. Pediatr Surg Int. 2007;23:723-30 pubmed
    ..Unlike other authors, we consider that the morbidity/mortality associated with cases of late diagnosis of these anomalies is high, and calls for earlier surgical treatment. ..
  63. Krüger V, Khoshvaghti M, Reutter H, Vogt H, Boemers T, Ludwig M. Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca. Pediatr Surg Int. 2008;24:893-7 pubmed publisher
    ..Furthermore, it cannot be ruled out that other genes involved in the signalling pathway of FGF10 may contribute to the formation of these congenital malformations. ..
  64. Freeman K, Lewbart G, Robarge W, Harms C, Law J, Stoskopf M. Characterization of eversion syndrome in captive Scyphomedusa jellyfish. Am J Vet Res. 2009;70:1087-93 pubmed publisher
    ..Results suggested that eversion syndrome is a complex phenomenon associated with degenerative changes of the bell matrix. ..
  65. Kim S, Chang H, Lee M, Shim K, Oh J, Kim D, et al. Spinal dysraphism with anorectal malformation: lumbosacral magnetic resonance imaging evaluation of 120 patients. J Pediatr Surg. 2010;45:769-76 pubmed publisher
    ..We further recommend a lumbosacral MRI examination in those whose SR is lower than 0.6. ..
  66. Meier A, Mellinger J. Endoscopic management of a duodenal duplication cyst. J Pediatr Surg. 2012;47:e33-5 pubmed publisher
    ..Traditionally, these lesions are treated surgically using either a laparoscopic or open transduodenal approach. We present the successful endoscopic treatment of a symptomatic duodenal duplication cyst in a 9-year-old girl. ..
  67. Cao Y, Li J, Shen L, Wang J, Xia Z, Tao K, et al. Gastric cancer in a situs inversus totalis patient with multiple intestinal and vessel variations related to gastrectomy surgery: A case report and literature review. Medicine (Baltimore). 2017;96:e8209 pubmed publisher
    ..As exemplified by our case, SIT might be accompanied by multiple anatomic variations. Detailed preoperative detailed imaging of the blood vessels and gastrointestinal tract is useful in these patients. ..
  68. Luo C, Wang C, Chiu C. Intussusception and intestinal malrotation in an infant: a case report. Pediatr Surg Int. 2003;19:413-4 pubmed
    ..We report one case with intussusception and intestinal malrotation in a 10-month-old infant. An unusual radiologic imaging feature and also abnormal intussusception mass location are discussed. ..
  69. Murakami S, Isozaki H, Shou T, Sakai K, Toyota H. Foregut duplication cyst of the stomach with pseudostratified columnar ciliated epithelium. Pathol Int. 2008;58:187-90 pubmed publisher
    ..The gastric cancer consisted of moderately differentiated adenocarcinoma with submucosal invasion and lymph node metastasis. Consequently, the present patient was diagnosed as having foregut duplication cyst of the stomach. ..
  70. Nakamura H, Okazaki T, Koga H, Lane G, Yamataka A. Congenital brachioesophagus with secondary intrathoracic stomach associated with rachischisis described as "serpentine-like syndrome": a case report and literature review. Pediatr Surg Int. 2012;28:63-6 pubmed publisher
    ..Our case died and we review four similar cases reported in the English literature. ..
  71. Langer J. Intestinal Rotation Abnormalities and Midgut Volvulus. Surg Clin North Am. 2017;97:147-159 pubmed publisher
    ..In general, the outcomes for children with a rotation abnormality are excellent, unless there has been midgut volvulus with significant intestinal ischemia. ..
  72. Sharma S, Gupta V, Sharma V. Hirschsprung's disease complicating colonic atresia. Indian J Pediatr. 2004;71:445-6 pubmed
    ..The child recovered satisfactorily following two stage Duhamel - Martin's pull through procedure. Authors present their experience with the present case and the pertinent literature. ..
  73. Chung H, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010;28:43-54 pubmed publisher
    ..This article describes the clinical and pathologic features and molecular genetics of EB-PA, the mutations in the alpha(6)beta(4) integrin and plectin genes that cause EB-PA, and the clinical implications of molecular genetics on EB-PA. ..
  74. Upadhyay N, Gomez D, Button M, Verbeke C, Menon K. Retroperitoneal enteric duplication cyst presenting as a pancreatic cystic lesion. A case report. JOP. 2006;7:492-5 pubmed
    ..We recommend surgical intervention for retroperitoneal EDCs due to its potential local complications including pressure effects on surrounding structures and neoplastic change. ..
  75. Corduk N, Koltuksuz U, Bir F, Karabul M, Herek O, Sarioglu Buke A. Association of rare intestinal malformations: colonic atresia and intestinal neuronal dysplasia. Adv Ther. 2007;24:1254-9 pubmed
    ..The patient died of septicemia at 34 d old. Specimens of patients with CA should be examined carefully so that dysganglionoses can be ruled out. ..
  76. Perwaiz A, Singh A, Singh T, Chaudhary A. Incidence and management of arterial anomalies in patients undergoing pancreaticoduodenectomy. JOP. 2010;11:25-30 pubmed
    ..During pancreaticoduodenectomy, arterial anomalies can increase operative complexity but do not usually compromise the safety of the procedure or its oncological outcome. ..
  77. We J, Young L, Park I, Shin J, Im S. Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities. Arch Gynecol Obstet. 2012;286:1443-52 pubmed publisher
    ..Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians. ..
  78. Ohno K, Nakamura T, Azuma T, Nakaoka T, Takama Y, Hayashi H, et al. Familial Currarino syndrome associated with Hirschsprung disease: two cases of a mother and daughter. J Pediatr Surg. 2013;48:233-8 pubmed publisher
    ..However, all the patients had sporadic HD. Recent reports suggest that anomalies of the enteric nerve system contribute to postoperative constipation in CS cases. ..
  79. Chowdhary S, Chalapathi G, Narasimhan K, Samujh R, Mahajan J, Menon P, et al. An audit of neonatal colostomy for high anorectal malformation: the developing world perspective. Pediatr Surg Int. 2004;20:111-3 pubmed
    ..Divided sigmoid colostomy has produced excellent results in babies >2.5 kg, but in the context of the developing world and limited critical care availability, transverse loop colostomy under local anaesthesia may save lives. ..
  80. Gálvez Y, Skaba R, Kalousova J, Rousková B, Hribal Z, Snajdauf J. Alimentary tract duplications in children: high incidence of associated anomalies. Eur J Pediatr Surg. 2004;14:79-84 pubmed
    ..A thorough examination to identify and characterise the presence of ATDs and associated congenital defects would provide appropriate diagnostic and surgical approaches for these patients. ..
  81. Kirschner H, Szavay P, Schaefer J, Fuchs J. Laparoscopic Roux-en-Y hepaticojejunostomy in children with long common pancreaticobiliary channel: surgical technique and functional outcome. J Laparoendosc Adv Surg Tech A. 2010;20:485-8 pubmed publisher
    ..It can also be performed in cases with choledochal cyst involving the hepatic ducts and for reresection of remnants of CBD. ..
  82. Hartog H, Dikkers F, Veldhuizen A, Coppes M, Sleeboom C, de Langen Z. Cervical cystic swelling in an adolescent: unusual association of a cervical mature teratoma with vertebral anomalies and a history of gastric duplication cyst. J Pediatr Surg. 2011;46:e15-8 pubmed publisher
    ..We discuss possible embryologic associations, which could explain the unusual combination of a mature teratoma with vertebral anomalies and gastric duplication. ..
  83. Guo X, Feng J, Wang G. Anorectal electromanometrical patterns in children with isolated neuronal intestinal dysplasia. Eur J Pediatr Surg. 2008;18:176-9 pubmed publisher
    ..These new findings support the notion that anorectal electromanometry is a safe and useful screening examination for IND patients. ..
  84. Kim A, Yoo S, Kim J, Eo H, Jeon T. Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation. Clin Imaging. 2013;37:398-402 pubmed publisher
  85. Stanton M, Penington E, Hutson J. A surviving infant with sirenomelia (Mermaid syndrome) associated with absent bladder. J Pediatr Surg. 2003;38:1266-8 pubmed
    ..The abnormal distal aorta shown in this case supports the theory that sirenomelia is an extreme form of caudal dysgenesis rather than occurring secondary to vascular steal. ..
  86. Belizon A, Levitt M, Shoshany G, Rodriguez G, Pena A. Rectal prolapse following posterior sagittal anorectoplasty for anorectal malformations. J Pediatr Surg. 2005;40:192-6 pubmed
    ..The presence of tethered cord and quality of the sacrum were not predictive of postoperative prolapse. Constipation seems to be a factor in the development of prolapse. ..
  87. Li Z, Yu T, Morishima M, Pao A, LaDuca J, Conroy J, et al. Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities. Hum Mol Genet. 2007;16:1359-66 pubmed
    ..This new mouse model represents a powerful tool to further understand the molecular and cellular mechanisms of Down syndrome. ..
  88. Zyromski N, Sandoval J, Pitt H, Ladd A, Fogel E, Mattar W, et al. Annular pancreas: dramatic differences between children and adults. J Am Coll Surg. 2008;206:1019-25; discussion 1025-7 pubmed publisher
    ..Congenital anomalies are more common in children with annular pancreas; complex pancreatobiliary disorders and malignancy are more frequent in adults. ..
  89. Feldstein A, Miller S, El Youssef M, Rodeberg D, Lindor N, Burgart L, et al. Chronic intestinal pseudoobstruction associated with altered interstitial cells of cajal networks. J Pediatr Gastroenterol Nutr. 2003;36:492-7 pubmed
  90. Saha S, Roy A, Saha S. Incidence of associated congenital anomalies in anorectal malformations. J Indian Med Assoc. 2005;103:690-1 pubmed
    ..54%) makes careful clinical examination and evaluation of the urinary tract during the neonatal or early infantile period mandatory in all cases of ARM, particularly to avoid deterioration of renal function in future. ..
  91. Frediani S, Almberger M, Iaconelli R, Avventurieri G, Manganaro F. An unusual case of congenital mesocolic hernia. Hernia. 2010;14:105-7 pubmed publisher
    ..Preoperative misdiagnosis has been reported to be elevated. Here, we report and discuss the clinical appearance and treatment approach of an unusual case of a spontaneous left paraduodenal hernia occurred in a child. ..
  92. Swibel Rosenthal L, Caballero N, Drake A. Otolaryngologic manifestations of craniofacial syndromes. Otolaryngol Clin North Am. 2012;45:557-77, vii pubmed publisher
    ..The principles highlighted in the algorithm can be applied to other craniofacial syndromes not addressed here, including Pierre Robin sequence and Down syndrome. ..