VACTERL ASSOCIATION OF INBORN BIRTH DEFECTS - A SURGEON’S OPINION
- Authors: Kozlov Y.A.1,2,3, Kovalkov K.A.4, Chubko D.M.5, Baradieva P.Z.1, Timofeev A.D.2, Zvonkov D.A.2, Us G.P.1,2,3,4,5, Kuznetsova N.N.1,2,3,4,5
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Affiliations:
- Municipal Ivano-Matryona Children’s Clinical Hospital
- Irkutsk State Medical University
- Irkutsk State Medical Academy of Postgraduation
- Children’s Municipal Clinical Hospital No. 5
- Krasnoyarsk Regional Clinical Centre of Maternity and Childhood Protection
- Issue: Vol 6, No 3 (2016)
- Pages: 95-101
- Section: Reviews
- URL: https://bakhtiniada.ru/2219-4061/article/view/122709
- DOI: https://doi.org/10.17816/psaic277
- ID: 122709
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Abstract
VACTERL association is a set of certain abnormalities in one newborn which include defects of the esophagus, rectum, heart, kidneys, vertebral column and extremities. Research papers devoted to the study of this complex disease are still rare. The majority of researchers insist that the syndrome was composed at least of three components (abnormalities of vertebra, tracheoesophageal fistula and anal atresia) though others believe that the constituents of VACTERL are constant. Treatment of the syndrome is usually restricted by surgeries which are needed to restore the esophagus, anus, eliminate abnormalities of the cardiovascular and excretory system and extremities. The scientific research is devoted to the study of VACTERL, correct interpretation of its components, determination of knowledge weaknesses and description of modern therapeutic approaches intended for the correction of surgical abnormalities included into the syndrome.
About the authors
Yu. A. Kozlov
Municipal Ivano-Matryona Children’s Clinical Hospital; Irkutsk State Medical University; Irkutsk State Medical Academy of Postgraduation
Author for correspondence.
Russian Federation
K. A. Kovalkov
Children’s Municipal Clinical Hospital No. 5Russian Federation
D. M. Chubko
Krasnoyarsk Regional Clinical Centre of Maternity and Childhood ProtectionRussian Federation
P. Zh. Baradieva
Municipal Ivano-Matryona Children’s Clinical HospitalRussian Federation
A. D. Timofeev
Irkutsk State Medical UniversityRussian Federation
D. A. Zvonkov
Irkutsk State Medical UniversityRussian Federation
G. P. Us
Municipal Ivano-Matryona Children’s Clinical Hospital; Irkutsk State Medical University; Irkutsk State Medical Academy of Postgraduation; Children’s Municipal Clinical Hospital No. 5; Krasnoyarsk Regional Clinical Centre of Maternity and Childhood ProtectionRussian Federation
N. N. Kuznetsova
Municipal Ivano-Matryona Children’s Clinical Hospital; Irkutsk State Medical University; Irkutsk State Medical Academy of Postgraduation; Children’s Municipal Clinical Hospital No. 5; Krasnoyarsk Regional Clinical Centre of Maternity and Childhood ProtectionRussian Federation
References
- Quan L., Smith D.W. The VATER association // J. of Pediatrics, 1973. No. 82. P. 104-107.
- Nora A.H., Nora J.J. A syndrome of multiple congenital anomalies associated with teratogenic exposure // Arch. Environ. Health, 1975. No. 30. P. 17-21.
- Martinez-Frias M.L., Frias J.L. VACTERL as primary, polytopic developmental field defects // Am. J. Med. Genet., 1999. No. 83. P. 13-16.
- Hall B.D. VATER/VACTERL association. In Management of genetic syndromes / Third edition. Edited by Suzanne B., Cassidy M.D., Allanson J.E. Hoboken. New Jersey: Published by John Wiley & Sons Inc., 2010. P. 871-878.
- Oral A., Caner I., Yigiter M., et al. Clinical characteristics of neonates with VACTERL association // Pediatr. Int., 2012. No. 54. P. 361-364.
- de Jong E.M., Felix J.F., Deurloo J.A., et al. Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheoesophageal fistula and full or partial VACTERL association // Birth. Defects Res. A Clin. Mol. Teratol., 2008. No. 82. P. 92-97.
- Temtamy S.A., Miller J.D. Extending the scope of the VATER association: definition of the VATER syndrome // J. Pediatr., 1974. No. 85. P. 345-349.
- Czeizel A., Telegdi L., Tusnàdy G. VACTERL-association. In Multiple Congenital Anomalies / Edited by Akadémiai Kiadò. Budapest: Czeizel, Telegdi, Tusnàdy; 1988. P. 247-280.
- Corsello G., Maresi E., Corrao A.M., et al. VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis // Am. J. Med. Genet., 1992. Vol. 1. No. 44. P. 813-815.
- Rittler M., Paz J.E., Castilla E.E. VACTERL association, epidemiologic definition and delineationc // Am. J. Med. Genet., 1996. No. 63. P. 529-536.
- Solomon B.D., Pineda-Alvarez D.E., Raam M.S., et al. Analysis of component findings in 79 patients diagnosed with VACTERL association // Am. J. Med. Genet., 2010. No. 152. P. 2236-2244.
- Solomon B.D., Raam M.S., Pineda-Alvarez D.E. 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. No. 51. P. 87-91
- Botto L.D., Khoury M.J., Mastroiacovo P., et al. The spectrum of congenital anomalies of the VATER association: an international study // Am. J. Med. Genet., 1997. No. 71. P. 8-15.
- Kallen K., Mastroiacovo P., Castilla E.E., Robert E., Kallen B. VATER non-random association of congenital malformations: study based on data from four malformation registers // Am. J. Med. Genet., 2001. No. 101. P. 26-32.
- Keckler S.J., St. Peter S.D., Valusek P.A., et al. VACTERL anomalies in patients with esophageal atresia: anupdated delineation of the spectrum and review of the literature // Pediatr. Surg. Int., 2007. No. 23. P. 309-313.
- Holden S.T., Cox J.J., Kesterton I., et al. Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome // J. Med. Genet., 2006. No. 43. P. 750-754.
- Khoury M.J., Cordero J.F., Greenberg F., et al. A population study of the VACTERL association: evidence for its etiologic heterogeneity // Pediatrics, 1983. No. 71. P. 815-820.
- Reardon W., Zhou X.P., Eng C. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association // J. Med. Genet., 2001. No. 38. P. 820-823.
- Castori M., Rinaldi R., Capocaccia P., et al. VACTERL association and maternal diabetes: a possible causal relationship? // Birth. Defects Res. A Clin. Mol. Teratol., 2008. No. 82. P. 169-172.
- Czeizel A., Ludanyi I. An aetiological study of the VACTERL-association // Eur. J. Pediatr., 1985. No. 144. P. 331-337.
- Walsh L.E., Vance G.H., Weaver D.D. Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications // Am. J. Med. Genet., 2001. No. 98. P. 137-144.
- Faivre L., Portnoi M.F., Pals G., et al. Should chromosome breakage studies be performed in patients with VACTERL association? // Am. J. Med. Genet., 2005. No. 137. P. 55-58.
- Shaw-Smith C. Oesophageal atresia, tracheo-oesophageal fistula, the VACTERL association: review of genetics and epidemiology // J. Med. Genet., 2006. No. 43. P. 545-554.
- Shaw-Smith C. Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature // Eur. J. Med. Genet., 2010. No. 53. P. 6-13.
- Furniss D., Kan S.H., Taylor I.B., et al. Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery // J. Med. Genet., 2009. No. 46. P. 730-735.
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