A rare case of VACTERL association with a genito-urinary anomaly
DOI:
https://doi.org/10.18203/2349-3291.ijcp20223429Keywords:
VACTERL, Newborn, TEFAbstract
VACTERL association is a cipher used to describe a cluster of conditions wherein there is a seemingly unexplainable non-random association of specific birth defects of multiple organ systems. It includes vertebral anomalies (V), anal anomalies (A), cardiac anomalies (C), tracheoesophageal fistula (TEF), renal anomalies (R) or radial bone anomalies (R), and limb defects (L). At least three of these seven malformations need to be present to constitute the VACTERL association. Other congenital anomalies of different systems may additionally be present with this association but are classified separately and the rarity of this occurrence is greater than even the VACTERL association. We report a neonate with congenital abnormalities of the cardiac system atrial septal defect and ventricular septal defect, tracheoesophageal fistula H type, and a multicystic dysplastic kidney. Additionally, the baby was also found to have a micropenis, a genito-urinary anomaly. With optimal surgical correction in the post-natal period and vigilant periodic follow-up, the prognosis may be relatively positive. Medical management can be used as therapy for treating long-term sequelae of the anomalies if any. Therefore, morbidity and mortality can be prevented to a great extent with early diagnosis and immediate intervention.
References
Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1977;71(1):8-15.
Martinez-Faias M. Farias J. VACTERL as primary, polytopic developmental field defects. Am J Med Gent. 1999;83(1):13-6.
Temtamy SA, Miller JD. Extending the scope of the VATER association: definition of the VATER syndrome. J Pediatr. 1974;85:345-9.
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics. 1983;71:815-20.
Felix JF, Klein A, Tibboel D. Etiology of esophageal atresia and tracheoesophageal fistula: “mind the gap”. Curr Gastroenterol Rep. 2010;12:215-22.
Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD. A population study of the VACTERL association: evidence for its etiologic heterogen- eity. Pediatrics. 1983;71:815-20.
Ünal S, Kibar A, Özaydn E, Karadag, N, Balci S. A new case of VACTERL association with congenital arachnoid cyst. Clin Dysmorphol. 2008;17(3):221-2.
Corcoran R, Entwistle GD. Letter: polycystic ovarian disease and oral contraception. Lancet. 1975;21:1386-7.
Rosendahl K. VACTERL (VATER) association in Pediatric orthopedic imaging. Edited by SteinWexler R and Wotton-Gorges S. 2015; P771-82610.
Gertler R and Miller-Hance W. VATER association in Essential of cardiology in A Practice of Anesthesia for Infants and Children. 2013;291-326.
Felix JF, Klein A, Tibboel D. Etiology of esophageal atresia and tracheoesophageal fistula: “mind the gap”. Curr Gastroenterol Rep. 2010;12:215-22.
Lautz T, Mandelia A, Radhakrishnan J. VACTERL associations in children undergoing surgery ffor esophageal atresia and anorectal malformations: Implications for pediatric surgeons. J Pediatr Surg. 2015;50(8):1245-50.
Solomon B, Raam M, Pineda-Alvarez D. 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.
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 Gen. 2001;101(1):26-32.
Stevenson R, Hunter A. Considering the Embryopathogenesis of VACTERL Association. Mol Syndromol. 2013;4(1-2):7-15.
Solomon B, Bear K, Kimonis V, de Klein A, Scott D, Shaw-Smith C, et al. Clinical Geneticists’ Views of VACTERL/VATER Association. Am J Med Genet A. 2012;3087-3100.
Solomon B, Pineda-Alvarez D, Raam M, Bous S, Keaton A, Vélez J, et al. Analysis of component findings in 79 patients diagnosed with VACTERL association Am J Med Genet A. 2010;152(9):2236-44.
Madan-Khetarpal S, Arnold G. Genetic Disorders and Dysmorphic conditions. Zitelli and Davis Atlas of Pediatr Physical Dagnosis. 2012;1-44.
