Research & Literature

Kidney transplantation in an adult patient with VACTERL association.

Cimen S, Nantais J, Guler S, Lawen J

BMJ case reports 2015; (2015()).

The management of anorectal malformation with congenital vestibular fistula: a single-stage modified anterior sagittal anorectoplasty.

Wang C, Li L, Liu S, et al.

Pediatric surgery international 2015; (31(9)):809-14 doi:10.1007/s00383-015-3749-1.

Sonic Hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications.

Lubinsky M

American journal of medical genetics. Part A 2015; (167A(11)):2594-8 doi:10.1002/ajmg.a.37257.

Long-term esophageal and respiratory outcomes in children with esophageal atresia and tracheoesophageal fistula.

Cartabuke RH, Lopez R, Thota PN

Gastroenterology report 2016; (4(4)):310-314 doi:10.1093/gastro/gov055.

Novel FANCI mutations in Fanconi anemia with VACTERL association.

Savage SA, Ballew BJ, Giri N, et al.

American journal of medical genetics. Part A 2016; (170A(2)):386-391 doi:10.1002/ajmg.a.37461.

Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

Velazquez D, Pereira E, Havranek T

AJP reports 2016; (6(1)):e74-6 doi:10.1055/s-0035-1566297.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

Zhang R, Marsch F, Kause F, et al.

Birth defects research 2017; (109(13)):1063-1069 doi:10.1002/bdr2.1042.

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.

Alter BP, Giri N, Savage SA, Rosenberg PS

Haematologica 2018; (103(1)):30-39 doi:10.3324/haematol.2017.178111.

A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant.

Ghandi Y, Shafiee A, Sharifi M, Bolandnazar NS

The journal of Tehran Heart Center 2017; (12(3)):131-133.

Management of neonates with right-sided aortic arch and esophageal atresia: International survey on IPEG AND ESPES members´ experience.

Aguilera-Pujabet M, Gahete JAM, Guillén G, et al.

Journal of pediatric surgery 2018; (53(10)):1923-1927 doi:10.1016/j.jpedsurg.2017.11.051.

Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula.

Mawlana W, Zamiara P, Lane H, et al.

Journal of pediatric surgery 2018; (53(9)):1651-1654 doi:10.1016/j.jpedsurg.2017.12.024.

Surgery for intrathoracic tracheoesophageal and bronchoesophageal fistula.

Bibas BJ, Cardoso PFG, Minamoto H, Pêgo-Fernandes PM

Annals of translational medicine 2018; (6(11)):210 doi:10.21037/atm.2018.05.25.

Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.

Savage SA, Walsh MF

Hematology/oncology clinics of North America 2018; (32(4)):657-668 doi:10.1016/j.hoc.2018.04.002.

Phenotypic diversity of patients diagnosed with VACTERL association.

Husain M, Dutra-Clarke M, Lemieux B, et al.

American journal of medical genetics. Part A 2018; (176(9)):1830-1837 doi:10.1002/ajmg.a.40363.

Infants with esophageal atresia and right aortic arch: Characteristics and outcomes from the Midwest Pediatric Surgery Consortium.

Lal DR, Gadepalli SK, Downard CD, et al.

Journal of pediatric surgery 2019; (54(4)):688-692 doi:10.1016/j.jpedsurg.2018.08.002.

A case report of intrahepatic bile duct confluence anomalies in VACTERL syndrome.

Yoon Y, Kim K, Yeom SK, et al.

Medicine 2018; (97(39)):e12411 doi:10.1097/MD.0000000000012411.

Therapeutic research in the crystal chromosome disease Fanconi anemia.

Minguillón J, Surrallés J

Mutation research. Genetic toxicology and environmental mutagenesis 2018; (836(Pt A)):104-108 doi:10.1016/j.mrgentox.2018.05.012.

The etiology of VACTERL association: Current knowledge and hypotheses.

Solomon BD

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(4)):440-446 doi:10.1002/ajmg.c.31664.

Outcomes of kidney transplants in pediatric patients with the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities association.

Diaz J, Chavers B, Chinnakotla S, Verghese P

Pediatric transplantation 2019; (23(2)):e13341 doi:10.1111/petr.13341.

HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.

Kause F, Zhang R, Ludwig M, et al.

Birth defects research 2019; (111(10)):591-597 doi:10.1002/bdr2.1493.

Can fecal continence be predicted in patients born with anorectal malformations?

Minneci PC, Kabre RS, Mak GZ, et al.

Journal of pediatric surgery 2019; (54(6)):1159-1163 doi:10.1016/j.jpedsurg.2019.02.035.

Unicornuate uterus with a rudimentary non-communicating cavitary horn in association with VACTERL association: case report.

Obeidat RA, Aleshawi AJ, Tashtush NA, Alsarawi H

BMC women's health 2019; (19(1)):71 doi:10.1186/s12905-019-0768-4.

VACTERL association complicated with multiple airway abnormalities: A case report.

Yang L, Li S, Zhong L, et al.

Medicine 2019; (98(42)):e17413 doi:10.1097/MD.0000000000017413.

Children and adolescents with VACTERL association: health-related quality of life and psychological well-being in children and adolescents and their parents.

Kassa AM, Dellenmark-Blom M, Thorsell Cederberg J, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2020; (29(4)):913-924 doi:10.1007/s11136-019-02364-w.

Development of a Multidisciplinary Medical Home Program for NICU Graduates.

Feehan K, Kehinde F, Sachs K, et al.

Maternal and child health journal 2020; (24(1)):11-21 doi:10.1007/s10995-019-02818-0.

Identification of an occult recto-prostatic fistula with cystoscopy-assisted air colostogram.

Shaughnessy MP, Park CJ, Hittelman AB, Cowles RA

International journal of surgery case reports 2019; (65()):349-353 doi:10.1016/j.ijscr.2019.11.019.

Spinal dysraphism as a new entity in V.A.C.TE.R.L syndrome, resulting in a novel acronym V.A.C.TE.R.L.S.

Amelot A, Cretolle C, de Saint Denis T, et al.

European journal of pediatrics 2020; (179(7)):1121-1129 doi:10.1007/s00431-020-03609-4.

Anorectal malformation patients' outcomes after definitive surgery using Krickenbeck classification: A cross-sectional study.

Makrufardi F, Arifin DN, Afandy D, et al.

Heliyon 2020; (6(2)):e03435 doi:10.1016/j.heliyon.2020.e03435.

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

van de Putte R, Dworschak GC, Brosens E, et al.

Frontiers in pediatrics 2020; (8()):310 doi:10.3389/fped.2020.00310.

Maternal risk associated with the VACTERL association: A case-control study.

van de Putte R, de Walle HEK, van Hooijdonk KJM, et al.

Birth defects research 2020; (112(18)):1495-1504 doi:10.1002/bdr2.1773.

Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences.

García-de-Teresa B, Rodríguez A, Frias S

Genes 2020; (11(12)) doi:10.3390/genes11121528.

Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.

Beaudoux O, Lebre AS, Doco Fenzy M, et al.

American journal of medical genetics. Part A 2021; (185(3)):937-944 doi:10.1002/ajmg.a.62050.

Peripartum Diagnosis of Currarino Syndrome With Anterior Sacral Meningocele: A Case Report.

Neumann KE, Pappas H, McCrory EH

A&A practice 2021; (15(8)):e01506 doi:10.1213/XAA.0000000000001506.

Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations.

Lin J, Zhao L, Zhao S, et al.

Genes 2021; (12(10)) doi:10.3390/genes12101615.

An experience with 124 cases of fanconi anemia: clinical spectrum, hematological parameters and chromosomal breakage analysis.

Mahmood R, Mahmood A, Khan SA, Jaffar R

American journal of blood research 2021; (11(5)):498-503.

VACTERL association in a fetus with multiple congenital malformations - Case report.

Pariza PC, Stavarache I, Dumitru VA, et al.

Journal of medicine and life 2021; (14(6)):862-867 doi:10.25122/jml-2021-0346.

Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

Chen J, Zheng N, Wang C, et al.

Annals of translational medicine 2022; (10(2)):63 doi:10.21037/atm-21-6572.

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Kortbawi H, Ames E, Pritchard A, et al.

American journal of medical genetics. Part A 2022; (188(8)):2479-2484 doi:10.1002/ajmg.a.62765.

Terminal myelocystocele: Surgical management.

Massa DS, Montivero NA, Medina SAP

Surgical neurology international 2022; (13()):234 doi:10.25259/SNI_299_2022.

Does presence of a VACTERL anomaly predict an associated gynecologic anomaly in females with anorectal malformations?: A Pediatric Colorectal and Pelvic Learning Consortium Study.

Ahmad H, Wood RJ, Avansino JR, et al.

Journal of pediatric surgery 2023; (58(3)):471-477 doi:10.1016/j.jpedsurg.2022.06.006.

In vitro fertilization outcomes in VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies and limb anomalies): report of 2 cases.

LePoidevin L, Dunn T, Arian SE, et al.

F&S reports 2022; (3(3)):280-284 doi:10.1016/j.xfre.2022.06.006.

The Use of Telehealth to Improve Handoffs Between Neonatologists and Primary Care Providers for Medically Complex Infants.

Hoffman K, Olson C, Zenge J, et al.

Telemedicine journal and e-health : the official journal of the American Telemedicine Association 2023; (29(10)):1585-1587 doi:10.1089/tmj.2022.0400.

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Tonni G, Koçak Ç, Grisolia G, et al.

Fetal and pediatric pathology 2023; (42(4)):651-674 doi:10.1080/15513815.2023.2206905.

Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study.

Kassa AM, Lilja HE

PloS one 2023; (18(6)):e0288061 doi:10.1371/journal.pone.0288061.

Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes.

Galarreta CI, Hoyt E, Forero L, et al.

American journal of medical genetics. Part A 2023; (191(11)):2693-2702 doi:10.1002/ajmg.a.63382.

The comparison of magnetic resonance and fluoroscopic imaging options in the preoperative assessment of boys with anorectal malformations and a colostomy.

Máslová D, Holubová Z, Poš L, et al.

Pediatric radiology 2024; (54(1)):68-81 doi:10.1007/s00247-023-05816-1.

Anorectal malformations (ARM) and VACTERL association and severity of congenital heart diseases (CHD): Experience of 396 consecutive patients in a tertiary center.

Moras P, Zarfati A, Bagolan P, et al.

Pediatrics and neonatology 2024; (65(4)):381-385 doi:10.1016/j.pedneo.2023.08.011.

Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology.

Szleper A, Lachowska M, Wojciechowski T, Pronicka-Iwanicka K

Brazilian journal of otorhinolaryngology 2024; (90(2)):101383 doi:10.1016/j.bjorl.2023.101383.

SALL4 deletion and kidney and cardiac defects associated with VACTERL association.

Watanabe D, Nakato D, Yamada M, et al.

Pediatric nephrology (Berlin, Germany) 2024; (39(8)):2347-2349 doi:10.1007/s00467-024-06306-8.

CHARGE syndrome with early fetal ear abnormalities: A case report.

Liang Y, He S, Yang L, et al.

Clinical case reports 2024; (12(3)):e8670 doi:10.1002/ccr3.8670.

Short and Long-Term Outcomes of PSARP versus LAARP and Single versus Staged Repair for Infants with High-Type Anorectal Malformations: A Systematic Review and Meta-Analysis.

Miscia ME, Lauriti G, Di Renzo D, et al.

Children (Basel, Switzerland) 2024; (11(3)) doi:10.3390/children11030376.

A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report.

Bhatt V, Rohatgi S, Singh M

Clinical case reports 2024; (12(4)):e8711 doi:10.1002/ccr3.8711.

Assessment of long-term quality of life, bowel and voiding function outcomes in patients with anorectal malformation at a single UK centre.

Beattie H, Subramanian T, Scudamore E, et al.

Pediatric surgery international 2024; (40(1)):95 doi:10.1007/s00383-024-05684-2.

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.

El Amrani Z, Natiq A, Sbiti A, et al.

Molecular syndromology 2024; (15(2)):125-129 doi:10.1159/000534432.

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case.

Shimekit MA, Yesuf EF, Teferi SM, Lemma MG

Journal of neurosurgery. Case lessons 2024; (7(18)).

Expansion of the core features of VACTERL association to include genital anomalies.

Forero LT, Henderson R, Galarreta C, et al.

American journal of medical genetics. Part A 2024; (194(9)):e63587 doi:10.1002/ajmg.a.63587.

Long-term (> 10 years) bowel function of anorectal malformations: a retrospective single-center study.

Wang K, Peng C, Pang W, et al.

Pediatric surgery international 2024; (40(1)):138 doi:10.1007/s00383-024-05731-y.

Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients.

de Beaufort CMC, Mackay TM, Stevens MF, et al.

Pediatric cardiology 2025; (46(5)):1202-1210 doi:10.1007/s00246-024-03536-3.

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.

Chi Y, Yao Y, Sun F, et al.

Italian journal of pediatrics 2024; (50(1)):121 doi:10.1186/s13052-024-01691-0.

Diagnosing Fanconi Anemia: A Rare Case Report From Rural India.

Malik A

Cureus 2024; (16(6)):e63381 doi:10.7759/cureus.63381.

Identification of urological anomalies associated with anorectal malformation in southwestern Uganda: Limitations and opportunities.

Oyania F, Eze N, Aturinde M, et al.

Journal of pediatric urology 2024; doi:10.1016/j.jpurol.2024.07.027.

Incidence of idiopathic syrinx in pediatric patients diagnosed with VACTERL association.

Papadakis JE, Weber D, Albanese JS, et al.

Journal of neurosurgery. Pediatrics 2025; (35(4)):385-390 doi:10.3171/2024.10.PEDS24242.

VACTERL Screening in Newborns With Anorectal Malformations - An Opportunity to Optimize Screening Practices, add Gynecologic and Spinal Conditions, and Utilize a New Acronym: VACTE(G)RLS.

Xu TO, Hanke RE, Das K, et al.

Journal of pediatric surgery 2025; (60(6)):162252 doi:10.1016/j.jpedsurg.2025.162252.

Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects.

Bozon K, Cuny H, Sheng DZ, et al.

eLife 2025; (13()).

Long overlooked: Adult VACTERL association unmasked by a large patent ductus arteriosus.

Tamilselvan A, Mohan MK

Radiology case reports 2025; (20(6)):2758-2762 doi:10.1016/j.radcr.2025.02.050.

Expect the unexpected: neuroblastoma in a patient with the VACTERL association.

Braungart S, Daff C

BMJ case reports 2025; (18(4)) doi:10.1136/bcr-2025-265123.

Single-Stage Surgery for Persistent Cloaca With Vertebral Defects, Anal Atresia, Cardiac Defects, Tracheoesophageal Fistula or Atresia, Renal Anomalies, and Limb Defects (VACTERL) Association: A Case Report on Avoiding Temporary Colostomy.

Masuko T, Yanai T, Toma M

Cureus 2025; (17(4)):e82487 doi:10.7759/cureus.82487.

The boy who lived: staged repair of congenital diaphragmatic hernia with esophageal atresia and tracheoesophageal fistula in a 32-week, 1.5 kg infant, and review of the literature.

Woodward JM, Corujo Avila P, Mathew B, et al.

Journal of surgical case reports 2025; (2025(5)):rjaf333 doi:10.1093/jscr/rjaf333.

Molecular mechanism, diagnosis, and treatment of VACTERL association.

Sun M, Zhao Q, Yang B, et al.

Frontiers in pediatrics 2025; (13()):1609624 doi:10.3389/fped.2025.1609624.

Acid suppression after esophageal atresia repair: Some infants do benefit.

Zeineddin S, Sullivan GA, Benjamin Pitt J, et al.

Journal of pediatric gastroenterology and nutrition 2025; (81(4)):960-966 doi:10.1002/jpn3.70173.

Long-Term Bowel and Urinary Function Outcomes and Quality of Life in Patients with Anorectal Malformations: 20 Years of Experience.

Baldanza F, Grasso F, Pensabene M, et al.

Children (Basel, Switzerland) 2025; (12(8)) doi:10.3390/children12081042.

Impact of VACTERL Association and Chromosomal Anomalies on Outcomes After Esophageal Atresia Repair: Insights from the EUPSA Registry.

Soyer T, Pederiva F, Dalena P, et al.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2026; (36(3)):229-236 doi:10.1055/a-2708-2852.

Parental Health After Preterm Birth: Insights From the National Survey of Children's Health.

Von Klein EE, Foster C, Zickafoose J, et al.

Academic pediatrics 2026; (26(2)):103182 doi:10.1016/j.acap.2025.103182.

A five year experience of anorectal malformation surgical reconstrunctions and functional outcome associated factors in Eastern Africa.

Kisaka JM, Kyaruzi VM, Ngotta V, et al.

BMC pediatrics 2025; (25(1)):936 doi:10.1186/s12887-025-05560-5.

A Systematic Review of Clinical and Genetic Approaches to VACTERL Association.

Bowden R, Martinez NN

Journal of paediatrics and child health 2026; doi:10.1111/jpc.70278.

Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenic CHD7 variant.

Ibeas C, Giraudo F, Männistö JME, et al.

JCEM case reports 2026; (4(3)):luag016 doi:10.1210/jcemcr/luag016.