메뉴 건너뛰기




Volumn 21, Issue 4, 2012, Pages 191-195

VATER/VACTERL association: Identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis

(26)  Bartels, Enrika a   Schulz, Anna C b   Mora, Nicole W h   Pineda Alvarez, Daniel E h   Wijers, Charlotte H W i   Marcelis, Carlo M j   Stressig, Rüdiger f   Ritgen, Jochen f   Schmiedeke, Eberhard a,g   Mattheisen, Manuel a,b,c   Draaken, Markus a   Hoffmann, Per a   Hilger, Alina C a   Dworschak, Gabriel C a   Baudisch, Friederike a,d   Ludwig, Michael d   Bagci, Soyhan b   Müller, Andreas b   Gembruch, Ulrich e   Geipel, Annegret e   more..

i NONE   (United States)

Author keywords

concordant; discordant; dizygous; monozygous; twin study; VACTERL association

Indexed keywords

ANUS ATRESIA; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; DIZYGOTIC TWINS; GENETIC ANALYSIS; HUMAN; HUMAN GENOME; KIDNEY MALFORMATION; LIMB MALFORMATION; MONOZYGOTIC TWINS; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME VACTERL; SYNDROME VATER; SYSTEMATIC REVIEW; TRACHEOESOPHAGEAL FISTULA; VERTEBRA MALFORMATION;

EID: 84865960184     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328358243c     Document Type: Review
Times cited : (21)

References (37)
  • 2
    • 0020081693 scopus 로고
    • Recurrence of the VATER association within a sibship
    • Auchterlonie IA, White MP (1982). Recurrence of the VATER association within a sibship. Clin Genet 21:122-124.
    • (1982) Clin Genet , vol.21 , pp. 122-124
    • Auchterlonie, I.A.1    White, M.P.2
  • 4
    • 67849092007 scopus 로고    scopus 로고
    • Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child
    • Becker K, Howard K, Klazinga D, Hall CM (2009). Caudal duplication syndrome with unilateral hypoplasia of the pelvis and lower limb and ventriculoseptal heart defect in a mother and features of VATER association in her child. Clin Dysmorphol 18:139-141.
    • (2009) Clin Dysmorphol , vol.18 , pp. 139-141
    • Becker, K.1    Howard, K.2    Klazinga, D.3    Hall, C.M.4
  • 7
    • 0036723816 scopus 로고    scopus 로고
    • Maternal diabetes increases the risk of caudal regression caused by retinoic acid
    • Chan BW, Chan KS, Koide T, Yeung SM, Leung MB, Copp AJ, et al. (2002). Maternal diabetes increases the risk of caudal regression caused by retinoic acid. Diabetes 51:2811-2816.
    • (2002) Diabetes , vol.51 , pp. 2811-2816
    • Chan, B.W.1    Chan, K.S.2    Koide, T.3    Yeung, S.M.4    Leung, M.B.5    Copp, A.J.6
  • 8
    • 0028279866 scopus 로고
    • Prenatal and postnatal findings in monochorionic, monoamniotic twins discordant for bilateral renal agenesisdysgenesis (perinatal lethal renal disease)
    • Cilento BG Jr, Benacerraf BR, Mandell J (1994). Prenatal and postnatal findings in monochorionic, monoamniotic twins discordant for bilateral renal agenesisdysgenesis (perinatal lethal renal disease). J Urol 151:1034-1035.
    • (1994) J Urol , vol.151 , pp. 1034-1035
    • Cilento Jr., B.G.1    Benacerraf, B.R.2    Mandell, J.3
  • 10
    • 33646259243 scopus 로고    scopus 로고
    • Monochorionic monoamniotic twins: Neonatal outcome
    • Cordero L, Franco A, Joy SD (2006). Monochorionic monoamniotic twins: neonatal outcome. J Perinatol 26:170-175.
    • (2006) J Perinatol , vol.26 , pp. 170-175
    • Cordero, L.1    Franco, A.2    Joy, S.D.3
  • 11
    • 0022374474 scopus 로고
    • An aetiological study of the VACTERL-association
    • Czeizel A, Ludá nyi I (1985). An aetiological study of the VACTERL-association. Eur J Pediatr 144:331-337.
    • (1985) Eur J Pediatr , vol.144 , pp. 331-337
    • Czeizel, A.1    Ludá Nyi, I.2
  • 12
    • 0017888201 scopus 로고
    • Caudal regression anomalad (sacral agenesis) in siblings
    • Finer NN, Bowen P, Dunbar LG (1978). Caudal regression anomalad (sacral agenesis) in siblings. Clin Genet 13:353-358.
    • (1978) Clin Genet , vol.13 , pp. 353-358
    • Finer, N.N.1    Bowen, P.2    Dunbar, L.G.3
  • 13
    • 0345246113 scopus 로고
    • Two observations on the genetics of atresia ani
    • Fuhrmann W, Rieger A, Vogel F (1958). Two observations on the genetics of atresia ani. Arch Kinderheilkd 158:264-270.
    • (1958) Arch Kinderheilkd , vol.158 , pp. 264-270
    • Fuhrmann, W.1    Rieger, A.2    Vogel, F.3
  • 14
    • 0034544768 scopus 로고    scopus 로고
    • Use of twins as mutual proxy respondents in a case-control study of breast cancer: Effect of item nonresponse and misclassification
    • Hamilton AS, Mack TM (2000). Use of twins as mutual proxy respondents in a case-control study of breast cancer: effect of item nonresponse and misclassification. Am J Epidemiol 152:1093-1103.
    • (2000) Am J Epidemiol , vol.152 , pp. 1093-1103
    • Hamilton, A.S.1    MacK, T.M.2
  • 15
    • 0014880702 scopus 로고
    • Congenital malformations in twins
    • Hay S,Wehrung DA (1970). Congenital malformations in twins. Am J Hum Genet 22:662-678.
    • (1970) Am J Hum Genet , vol.22 , pp. 662-678
    • Hay, S.1    Wehrung, D.A.2
  • 16
    • 0020623203 scopus 로고
    • A population study of the VACTERL association: Evidence for its etiologic heterogeneity
    • Khoury MJ, Cordero JF, Greenberg F, James LM, Erickson JD (1983). A population study of the VACTERL association: evidence for its etiologic heterogeneity. Pediatrics 7:815-820.
    • (1983) Pediatrics , vol.7 , pp. 815-820
    • Khoury, M.J.1    Cordero, J.F.2    Greenberg, F.3    James, L.M.4    Erickson, J.D.5
  • 17
    • 0030725245 scopus 로고    scopus 로고
    • Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: Report and review
    • Klinger G, Merlob P, Aloni D, Maayan A, Sirota L (1997). Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: report and review. Am J Med Genet 73:76-79.
    • (1997) Am J Med Genet , vol.73 , pp. 76-79
    • Klinger, G.1    Merlob, P.2    Aloni, D.3    Maayan, A.4    Sirota, L.5
  • 18
    • 0018151224 scopus 로고
    • Persistent cloaca with absent penis and anal atresia in one of identical twins
    • Koffler H, Aase JM, Papile LA, Coen RW (1978). Persistent cloaca with absent penis and anal atresia in one of identical twins. J Pediatr 93:821-823.
    • (1978) J Pediatr , vol.93 , pp. 821-823
    • Koffler, H.1    Aase, J.M.2    Papile, L.A.3    Coen, R.W.4
  • 20
    • 0029987634 scopus 로고    scopus 로고
    • Familial recurrence of tracheoesophageal fistula and associated malformations
    • McMullen KP, Karnes PS, Moir CR, Michels VV (1996). Familial recurrence of tracheoesophageal fistula and associated malformations. Am J Med Genet 63:525-528.
    • (1996) Am J Med Genet , vol.63 , pp. 525-528
    • McMullen, K.P.1    Karnes, P.S.2    Moir, C.R.3    Michels, V.V.4
  • 21
    • 0028944338 scopus 로고
    • The relation between pulmonary hypoplasia and amniotic fluid volume: Lessons learned from discordant urinary tract anomalies in monoamniotic twins
    • McNamara MF, McCurdy CM, Reed KL, Philipps AF, Seeds JW (1995). The relation between pulmonary hypoplasia and amniotic fluid volume: lessons learned from discordant urinary tract anomalies in monoamniotic twins. Obstet Gynecol 85:867-869.
    • (1995) Obstet Gynecol , vol.85 , pp. 867-869
    • McNamara, M.F.1    McCurdy, C.M.2    Reed, K.L.3    Philipps, A.F.4    Seeds, J.W.5
  • 22
    • 0017756843 scopus 로고
    • Congenital anomalies including the VATER association in a patient with del(6)q deletion
    • McNeal RM, Skoglund RR, Francke U (1977). Congenital anomalies including the VATER association in a patient with del(6)q deletion. J Pediatr 91:957-960.
    • (1977) J Pediatr , vol.91 , pp. 957-960
    • McNeal, R.M.1    Skoglund, R.R.2    Francke, U.3
  • 23
    • 0032920311 scopus 로고    scopus 로고
    • VACTERL manifestations in two generations of a family
    • Nezerati MM, McLeod DR (1999). VACTERL manifestations in two generations of a family. Am J Med Genet 82:40-42.
    • (1999) Am J Med Genet , vol.82 , pp. 40-42
    • Nezerati, M.M.1    McLeod, D.R.2
  • 24
    • 34447268977 scopus 로고    scopus 로고
    • Embryonic oxidative stress as a mechanism of teratogenesis with special emphasis on diabetic embryopathy
    • Ornoy A (2007). Embryonic oxidative stress as a mechanism of teratogenesis with special emphasis on diabetic embryopathy. Reprod Toxicol 24:31-41.
    • (2007) Reprod Toxicol , vol.24 , pp. 31-41
    • Ornoy, A.1
  • 25
    • 0015541929 scopus 로고
    • The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects
    • Quan L, Smith DW (1973). The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: a spectrum of associated defects. J Pediatr 82:104-107.
    • (1973) J Pediatr , vol.82 , pp. 104-107
    • Quan, L.1    Smith, D.W.2
  • 26
    • 0034927358 scopus 로고    scopus 로고
    • The genetic epidemiology of cancer: Interpreting family and twin studies and their implications for molecular genetic approaches
    • Risch N (2001). The genetic epidemiology of cancer: interpreting family and twin studies and their implications for molecular genetic approaches. Cancer Epidemiol Biomarkers Prev 10:733-741.
    • (2001) Cancer Epidemiol Biomarkers Prev , vol.10 , pp. 733-741
    • Risch, N.1
  • 27
    • 0030002181 scopus 로고    scopus 로고
    • VACTERL association, epidemiologic definition and delineation
    • Rittler M, Paz JE, Castilla EE (1996). VACTERL association, epidemiologic definition and delineation. Am J Med Genet 63:529-536.
    • (1996) Am J Med Genet , vol.63 , pp. 529-536
    • Rittler, M.1    Paz, J.E.2    Castilla, E.E.3
  • 28
    • 0015184201 scopus 로고
    • Imperforate anus/polydactyly/vertebral anomalies syndrome: A hereditary trait?
    • Say B, Balci S, Pirnar T, Hiç sönmez A (1971). Imperforate anus/polydactyly/vertebral anomalies syndrome: a hereditary trait? J Pediatr 79:1033-1034.
    • (1971) J Pediatr , vol.79 , pp. 1033-1034
    • Say, B.1    Balci, S.2    Pirnar, T.3    Hiç Sönmez, A.4
  • 29
    • 33745906255 scopus 로고    scopus 로고
    • Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: Review of genetics and epidemiology
    • Shaw-Smith C (2006). Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. J Med Genet 43:545-554.
    • (2006) J Med Genet , vol.43 , pp. 545-554
    • Shaw-Smith, C.1
  • 33
    • 80052574197 scopus 로고    scopus 로고
    • De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene
    • Solomon BD, Pineda-Alvarez DE, Hadley DW, Keaton AA, Agochukwu NB, Raam MS, et al. (2011b). De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. Birth Defects Res A Clin Mol Teratol 91:862-865.
    • (2011) Birth Defects Res A Clin Mol Teratol , vol.91 , pp. 862-865
    • Solomon, B.D.1    Pineda-Alvarez, D.E.2    Hadley, D.W.3    Keaton, A.A.4    Agochukwu, N.B.5    Raam, M.S.6
  • 34
    • 0035863626 scopus 로고    scopus 로고
    • Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications
    • Walsh LE, Vance GH,Weaver DD (2001). Distal 13q deletion syndrome and the VACTERL association: case report, literature review, and possible implications. Am J Med Genet 98:137-144.
    • (2001) Am J Med Genet , vol.98 , pp. 137-144
    • Walsh, L.E.1    Vance Ghweaver, D.D.2
  • 35
    • 78449276204 scopus 로고    scopus 로고
    • Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: Evidence for risk factors across different populations
    • Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, et al. (2010). Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatr Surg Int 26:1093-1099.
    • (2010) Pediatr Surg Int , vol.26 , pp. 1093-1099
    • Wijers, C.H.1    De Blaauw, I.2    Marcelis, C.L.3    Wijnen, R.M.4    Brunner, H.5    Midrio, P.6
  • 36
    • 66949112210 scopus 로고    scopus 로고
    • Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter
    • Yamada K, Uchiyama A, Arai M, Kubodera K, Yamamoto Y, Orii KO, et al. (2009). Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter. Congenit Anom (Kyoto) 49:85-88.
    • (2009) Congenit Anom (Kyoto) , vol.49 , pp. 85-88
    • Yamada, K.1    Uchiyama, A.2    Arai, M.3    Kubodera, K.4    Yamamoto, Y.5    Orii, K.O.6
  • 37
    • 52649109709 scopus 로고    scopus 로고
    • Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR
    • Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T (2008). Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. J Hum Genet 53:950-955.
    • (2008) J Hum Genet , vol.53 , pp. 950-955
    • Yamazawa, K.1    Kagami, M.2    Fukami, M.3    Matsubara, K.4    Ogata, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.