VACTERL ASSOCIATION OF INBORN BIRTH DEFECTS - A SURGEON’S OPINION
- 作者: 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
-
隶属关系:
- 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
- 期: 卷 6, 编号 3 (2016)
- 页面: 95-101
- 栏目: Reviews
- ##submission.dateSubmitted##: 30.01.2017
- ##submission.datePublished##: 30.09.2016
- URL: https://rps-journal.ru/jour/article/view/277
- DOI: https://doi.org/10.17816/psaic277
- ID: 277
如何引用文章
全文:
详细
作者简介
Yu. Kozlov
Municipal Ivano-Matryona Children’s Clinical Hospital; Irkutsk State Medical University; Irkutsk State Medical Academy of Postgraduation
编辑信件的主要联系方式.
Email: noemail@neicon.ru
俄罗斯联邦
K. Kovalkov
Children’s Municipal Clinical Hospital No. 5
Email: noemail@neicon.ru
俄罗斯联邦
D. Chubko
Krasnoyarsk Regional Clinical Centre of Maternity and Childhood Protection
Email: noemail@neicon.ru
俄罗斯联邦
P. Baradieva
Municipal Ivano-Matryona Children’s Clinical Hospital
Email: noemail@neicon.ru
俄罗斯联邦
A. Timofeev
Irkutsk State Medical University
Email: noemail@neicon.ru
俄罗斯联邦
D. Zvonkov
Irkutsk State Medical University
Email: noemail@neicon.ru
俄罗斯联邦
G. 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 Protection
Email: noemail@neicon.ru
俄罗斯联邦
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 Protection
Email: noemail@neicon.ru
俄罗斯联邦
参考
- 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.