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Original Articles

A Syndrome of Multiple Congenital Anomalies Associated With Teratogenic Exposure

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Pages 17-21 | Received 03 Jul 1974, Accepted 21 Aug 1974, Published online: 02 May 2013

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Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni & Mario Lituania. (2023) Clinical Presentations and Diagnostic Imaging of VACTERL Association. Fetal and Pediatric Pathology 42:4, pages 651-674.
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Christoph Dracopoulos, Michael Gembicki, Jann Lennard Scharf, Amrei Welp, Nadine Berg & Jan Weichert. (2022) Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS. Fetal and Pediatric Pathology 41:5, pages 871-880.
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Saeid Aslanabadi, Kamyar Ghabili, Mohsen Rouzrokh, Mohammad Bagher Hosseini, Masoud Jamshidi, Farzad Hami Adl & Mohammadali M Shoja. (2011) Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study. International Journal of General Medicine 4, pages 487-491.
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Mette Warburg. (1983) Ocular coloboma and multiple congenital anomalies: The CHARGE association. Ophthalmic Paediatrics and Genetics 2:3, pages 189-199.
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R. Schoental. (1976) Letter to the Editor. International Journal of Environmental Studies 9:1, pages 81-81.
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Articles from other publishers (161)

Bengt Danielsson, Neil Vargesson & Christian Danielsson. (2023) Teratogenicity and Reactive Oxygen Species after transient embryonic hypoxia: Experimental and clinical evidence with focus on drugs causing failed abortion in humans. Reproductive Toxicology 122, pages 108488.
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Jessica Ritter, Kristina Lisec, Marina Klinner, Martina Heinrich, Dietrich von Schweinitz, Roland Kappler & Jochen Hubertus. (2023) Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association. Children 10:5, pages 882.
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Gandra Abhinav, Kota Vamshi & S. Narasimha Rao. (2023) An atypical case of tracheoesophageal fistula with esophageal atresia- Case report. IP International Journal of Medical Paediatrics and Oncology 8:4, pages 172-175.
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John S. Riley, John Schomberg, Aditya Mantha, Yigit S. Guner, Amy Cuevas, Courtney D. Stephenson, William H. Peranteau & Peter T. Yu. (2023) A Novel VACTERL Assessment Tool to Facilitate Counseling for Expectant Families. Fetal Diagnosis and Therapy 50:5, pages 368-375.
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Behnaz Moradi, Masoumeh Banihashemian, Amir Reza Radmard, Ahmad‐Reza Tahmasebpour, Masoumeh Gity, Anahita Dadali, Solmaz Piri, Atefeh Zeinoddini & Ehsan Najafi. (2021) A Spectrum of Ultrasound and MR Imaging of Fetal Gastrointestinal Abnormalities: Part 2 Anorectal Malformation, Liver, and Abdominal Wall Anomalies . Journal of Ultrasound in Medicine 41:10, pages 2615-2627.
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Jessica Ritter, Kristina Lisec, Martina Heinrich, Dietrich von Schweinitz, Roland Kappler & Jochen Hubertus. (2021) Genetic Evidence for Congenital Vascular Disorders in Patients with VACTERL Association. European Journal of Pediatric Surgery 32:01, pages 061-066.
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Tina-Ioana Bobei, Romina-Marina Sima, Cristina-Diana Popescu, Mihaela Amza & Liana Pleș. (2022) Isolated anorectal atresia diagnosed in the first trimester – case report. Ginecologia.ro 4:38, pages 12.
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Ji Hyun Ahn & Hee Joung Choi. (2021) Accompanied anomalies in anal atresia or tracheo‐esophageal fistula: Comparison with or without VACTERL association . Birth Defects Research 113:9, pages 696-701.
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Benjamin D. Solomon & Bryan D. Hall. 2021. Cassidy and Allanson's Management of Genetic Syndromes. Cassidy and Allanson's Management of Genetic Syndromes 995 1004 .
Erwin Brosens, Janine F. Felix, Anne Boerema-de Munck, Elisabeth M. de Jong, Elisabeth M. Lodder, Sigrid Swagemakers, Marjon Buscop-van Kempen, Ronald R. de Krijger, Rene M. H. Wijnen, Wilfred F. J. van IJcken, Peter van der Spek, Annelies de Klein, Dick Tibboel & Robbert J. Rottier. (2020) Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas. PLOS ONE 15:11, pages e0242167.
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Neha Gupta & Preeti Singh. (2020) A Novel Co-occurrence of VACTERL and Closed Neural Tube Defect. Journal of Fetal Medicine 7:3, pages 253-258.
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Carolina I. Galarreta, Florin Vaida & Lynne M. Bird. (2020) Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study. American Journal of Medical Genetics Part A 182:6, pages 1351-1363.
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Nieves Martín-Alguacil & Luis Avedillo. (2019) VACTERL Association in a Female Pig (Sus scrofa domesticus). Journal of Comparative Pathology 173, pages 8-12.
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Cara L. Slagle, Elizabeth V. Schulz & David J. Annibale. (2019) VACTERL Association with Situs Inversus Totalis: A Unique Combination. Neonatal Network 38:2, pages 98-106.
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Benjamin D. Solomon. (2018) The etiology of VACTERL association: Current knowledge and hypotheses. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 178:4, pages 440-446.
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Peter G. Passias, Gregory W. Poorman, Dennis Vasquez-Montes, Charles Wang, Cyrus Jalai, Samantha R. Horn, Leah M. Steinmetz, Cole A. Bortz, Frank A. Segreto, John Moon, Peter L. Zhou, Bassel G. Diebo & Shaleen Vira. (2018) Cluster analysis describes constellations of cardiac anomalies presenting in spinal anomaly patients. Acta Neurochirurgica 160:8, pages 1613-1619.
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Ariel F. Martinez, Paul S. Kruszka & Maximilian Muenke. (2018) Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 178:2, pages 246-257.
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Samantha Brown, Lucas Rosa Fraga, Gary Cameron, Lynda Erskine & Neil Vargesson. (2018) The Primodos components Norethisterone acetate and Ethinyl estradiol induce developmental abnormalities in zebrafish embryos. Scientific Reports 8:1.
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Fallon R. Brewer & Lorie M. Harper. 2018. Obstetric Imaging: Fetal Diagnosis and Care. Obstetric Imaging: Fetal Diagnosis and Care 593 595.e1 .
Paul D. Losty. 2018. Rickham's Neonatal Surgery. Rickham's Neonatal Surgery 541 562 .
A‐M Kassa, G Engvall & H Engstrand Lilja. (2017) Young children with severe congenital malformations (VACTERL) expressed mixed feelings about their condition and worries about needles and anaesthesia. Acta Paediatrica 106:10, pages 1694-1701.
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Justin D. Klein & Russell W. Jennings. 2017. Esophageal and Gastric Disorders in Infancy and Childhood. Esophageal and Gastric Disorders in Infancy and Childhood 91 105 .
Joanne E. Given, Maria Loane, Johannes M. Luteijn, Joan K. Morris, Lolkje T.W. de Jong van den Berg, Ester Garne, Marie‐Claude Addor, Ingeborg Barisic, Hermien de Walle, Miriam Gatt, Kari Klungsoyr, Babak Khoshnood, Anna Latos‐Bielenska, Vera Nelen, Amanda J. Neville, Mary O'Mahony, Anna Pierini, David Tucker, Awi Wiesel & Helen Dolk. (2016) EUROmediCAT signal detection: an evaluation of selected congenital anomaly‐medication associations. British Journal of Clinical Pharmacology 82:4, pages 1094-1109.
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Victoria A. Lane, Erica Ambeba, Deena J. Chisolm, Daniel Lodwick, Marc A. Levitt, Richard J. Wood, Katherine J. Deans & Peter C. Minneci. (2016) Low vertebral ano-rectal cardiac tracheo-esophageal renal limb screening rates in children with anorectal malformations. Journal of Surgical Research 203:2, pages 398-406.
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Barbara Mikat, Claudia Roll, Detlev Schindler, Ulrich Gembruch, Iris Klempert, Karin Buiting, Nuria C. Bramswig & Dagmar Wieczorek. (2016) X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy. Clinical Dysmorphology 25:2, pages 73-76.
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Bridget K. Cunningham, Alina Khromykh, Ariel F. Martinez, Tyler Carney, Donald W. Hadley & Benjamin D. Solomon. (2014) Analysis of renal anomalies in VACTERL association. Birth Defects Research Part A: Clinical and Molecular Teratology 100:10, pages 801-805.
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Diana Carli, Lorenzo Garagnani, Mario Lando, Tracy Fairplay, Sergio Bernasconi, Antonio Landi & Antonio Percesepe. (2014) VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with?Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper?Limb Involvement. The Journal of Pediatrics 164:3, pages 458-462.e2.
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Simona La Placa, Mario Giuffrè, Antonella Gangemi, Stefania Di Noto, Federico Matina, Federica Nociforo, Vincenzo Antona, Maria Rita Di Pace, Maria Piccione & Giovanni Corsello. (2013) Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?. Italian Journal of Pediatrics 39:1.
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Gan-qiong Xu, Qi-chang Zhou, Ming Zhang, Da-rong Pu & Zhu Ouyang. (2013) TACRD and VACTERL associations in a fetus: Case report and review of the literature. International Journal of Pediatric Otorhinolaryngology 77:12, pages 2081-2085.
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Bridget K. Cunningham, Donald W. Hadley, Hwaida Hannoush, Andrew C. Meltzer, Nickie Niforatos, Daniel Pineda‐Alvarez, Vandana Sachdev, Nicole Warren‐Mora & Benjamin D. Solomon. (2013) Analysis of cardiac anomalies in VACTERL association. Birth Defects Research Part A: Clinical and Molecular Teratology 97:12, pages 792-797.
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Sam W. Moore. (2013) Associations of anorectal malformations and related syndromes. Pediatric Surgery International 29:7, pages 665-676.
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G. Natarajan, D. Jeyachandran, B. Subramaniyan, D. Thanigachalam & A. Rajagopalan. (2013) Congenital anomalies of kidney and hand: a review. Clinical Kidney Journal 6:2, pages 144-149.
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Dhananjay Vaze, Santosh Mahalik & Katragadda L. N. Rao. (2012) Novel association of VACTERL, neural tube defect and crossed renal ectopia – Sonic hedgehog signaling: A point of coherence?. Congenital Anomalies 52:4, pages 211-215.
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Benjamin D. Solomon, Kelly A. Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw‐Smith, Dick Tibboel, Heiko Reutter & Philip F. Giampietro. (2012) Clinical geneticists' views of VACTERL/VATER association. American Journal of Medical Genetics Part A 158A:12, pages 3087-3100.
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Hsin‐Yi Lin, Shuan‐Pei Lin, Hsiang‐Yu Lin, Chyong‐Hsin Hsu, Jui‐Hsing Chang, Hsin‐An Kao, Han‐Yang Hung, Chun‐Chih Peng, Hung‐Chang Lee, Ming‐Ren Chen & Jeng‐Daw Tsai. (2012) Functional independence of Taiwanese children with VACTERL association. American Journal of Medical Genetics Part A 158A:12, pages 3101-3105.
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Zhanyong Bing. (2012) Obstructive Azoospermia in a Patient with VATER Association. Open Journal of Pathology 02:04, pages 159-161.
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Carroll M. Harmon & Arnold G. Coran. 2012. Pediatric Surgery. Pediatric Surgery 893 918 .
J. M. Friedland-Little, A. D. Hoffmann, P. J. R. Ocbina, M. A. Peterson, J. D. Bosman, Y. Chen, S. Y. Cheng, K. V. Anderson & I. P. Moskowitz. (2011) A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus. Human Molecular Genetics 20:19, pages 3725-3737.
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Joanna McCauley, Navta Masand, Ruth McGowan, Sulekha Rajagopalan, Alasdair Hunter, Jacques L. Michaud, Kate Gibson, Jeremy Robertson, Fiona Vaz, Stephen Abbs & Simon T. Holden. (2011) X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations . American Journal of Medical Genetics Part A 155:10, pages 2370-2380.
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Manu S. Raam, Daniel E. Pineda-Alvarez, Donald W. Hadley & Benjamin D. Solomon. (2011) Long-term outcomes of adults with features of VACTERL association. European Journal of Medical Genetics 54:1, pages 34-41.
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Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M. Boemers, Stefan Aretz, Felix F. Brockschmidt, Markus M. Nöthen, Michael Ludwig & Heiko Reutter. (2011) De novo microduplication at 22q11.21 in a patient with VACTERL association. European Journal of Medical Genetics 54:1, pages 9-13.
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Paul D. Sponseller & Beverlie L. Ting. 2011. Rothman Simeone The Spine. Rothman Simeone The Spine 374 384 .
Benjamin D. Solomon, Daniel E. Pineda‐Alvarez, Manu S. Raam, Sophia M. Bous, Amelia A. Keaton, Jorge I. Vélez & Derek A.T. Cummings. (2010) Analysis of component findings in 79 patients diagnosed with VACTERL association. American Journal of Medical Genetics Part A 152A:9, pages 2236-2244.
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L. Titus‐Ernstoff, R. Troisi, E. E. Hatch, J. R. Palmer, M. Hyer, R. Kaufman, E. Adam, K. Noller & R. N. Hoover. (2010) Birth defects in the sons and daughters of women who were exposed in utero to diethylstilbestrol (DES). International Journal of Andrology 33:2, pages 377-384.
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Bryan D. Hall. 2010. Management of Genetic Syndromes. Management of Genetic Syndromes 871 879 .
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Ali Gedikbasi, Kanay Yararbas, Gokhan Yildirim, Dogukan Yildirim, Oguz Arslan, Ahmet Gul & Yavuz Ceylan. (2009) Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association. Journal of Clinical Ultrasound 37:8, pages 464-466.
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Sun-Young Ahn, Stanley Mendoza, George Kaplan & Vivian Reznik. (2009) Chronic kidney disease in the VACTERL association: clinical course and outcome. Pediatric Nephrology 24:5, pages 1047-1053.
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F. Álvarez Caro, A. Gómez Farpón, R.P. Arias Llorente, M.A. Ibáñez Fernández, G.D. Coto Cotallo & J.B. López Sastre. (2008) Cuadro polimalformativo en un recién nacido. Asociación VACTERL con bazo supranumerario. Anales de Pediatría 69:6, pages 583-585.
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Julie Kaplan & Louanne Hudgins. (2008) Neonatal Presentations of CHARGE Syndrome and VATER/VACTERL Association. NeoReviews 9:7, pages e299-e304.
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Marco Castori, Rosanna Rinaldi, Paolo Capocaccia, Mario Roggini & Paola Grammatico. (2008) VACTERL association and maternal diabetes: A possible causal relationship?. Birth Defects Research Part A: Clinical and Molecular Teratology 82:3, pages 169-172.
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Elisabeth M. de Jong, Janine F. Felix, Jacqueline A. Deurloo, Marieke F. van Dooren, Daniël C. Aronson, Claudine P. Torfs, Hugo A. Heij & Dick Tibboel. (2008) Non‐VACTERL‐type anomalies are frequent in patients with esophageal atresia/tracheo‐esophageal fistula and full or partial VACTERL association. Birth Defects Research Part A: Clinical and Molecular Teratology 82:2, pages 92-97.
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Janine F. Felix, Marieke F. van Dooren, Merel Klaassens, Wim C. J. Hop, Claudine P. Torfs & Dick Tibboel. (2008) Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: Results of a case‐control study. Birth Defects Research Part A: Clinical and Molecular Teratology 82:2, pages 98-105.
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Michael J. Dawrant, Shay Giles, John Bannigan & Prem Puri. (2007) Adriamycin produces a reproducible teratogenic model of vertebral, anal, cardiovascular, tracheal, esophageal, renal, and limb anomalies in the mouse. Journal of Pediatric Surgery 42:10, pages 1652-1658.
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