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VACTERL Association in a Newborn – A Rare Case Report | ||
| World Journal of Peri and Neonatology | ||
| Volume 2, Issue 1, April 2019, Pages 44-46 PDF (379.66 K) | ||
| DOI: 10.18502/wjpn.v2i1.2811 | ||
| Authors | ||
| Mohammad Hosein Lookzadeh1, 2; Fatemeh Tahghighi* 1, 2; Abdolhamid Amooee3 | ||
| 1Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran | ||
| 2Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran | ||
| 3Department of Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran | ||
| Abstract | ||
| Syndrome or association VACTERL is a group of several birth defects of congenital anomalies in an individual. There must be at least 3 anomalies simultaneously for this syndrome to be referred, including spinal anomalies, anorectal anomalies, cardiac disorders, esophageal atresia with tracheoesophageal fistula, renal anomaly and limb anomalies. The organs involvement in VACTERL may present different severity and quality, from asymptomatic to life-threatening cases. Various studies have reported the other congenital associations such as cerebrovascular and pulmonary anomalies in addition to the above-mentioned called as the non-VACTERL association. The patient in this study had all 6 VCTERL syndrome criteria. The feature of this patient was the involvement of his limb and kidney anomaly, which were different on both sides. However, in previously reported cases, these two anomalies were both in one direction and on the same side. Finally, the VACTERL syndrome and Non-VACTERL Association in this patient represented in the form of esophageal atresia with trachea esophageal fistula and atrial septal defect, and the presence of a kidney with severe hydronephrosis and sacral agenesis and imperforated anus, recto vesical fistula and limb anomalies in the form of one-phalanx fingers on the left. | ||
| Keywords | ||
| VACTERL; Anomaly; Birth Defects; Newborn | ||
| References | ||
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1. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis 2011; 6: 56. 2. Solomon BD, Raam MS, Pineda-Alvarez DE. Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association. Congenit Anom (Kyoto) 2011; 51(2): 87-91. 3. Castori M, Rinaldi R, Capocaccia P, Roggini M, Grammatico P. VACTERL association and maternal diabetes: a possible causal relationship? Birth Defects Res A Clin Mol Teratol 2008; 82(3): 169-72. 4. Edison RJ, Muenke M. Mechanistic and epidemiologic considerations in theevaluation of adverse birth outcomes following gestational exposure to statins. Am J Med Genet A 2004; 131(3): 287-98. 5. Kliegman RM, Stanton B, Geme J, Schor NF. Nelson text book of pediatrics. Philadelphia, PA: Elsevier Health Sciences; 2015. 6. Hilger A, Schramm C, Draaken M, Mughal SS, Dworschak G, Bartels E, et al. Familial occurrence of the VATER/VACTERL association. Pediatr Surg Int 2012; 28(7): 725-9. 7. Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B. VATER non-random association of congenital malformations: Study based on data from four malformation registers. Am J Med Genet 2001; 101(1): 26-32. 8. Quan L, Smith DW. The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects. J Pediatr 1973; 82(1): 104-7. 9. de Jong EM, Felix JF, Deurloo JA, van Dooren MF, Aronson DC, Torfs CP, et al. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association. Birth Defects Res A Clin Mol Teratol 2008; 82(2): 92-7. | ||
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