Analytic methods for evaluating patterns of multiple congenital anomalies in birth defect registries

AJ Agopian, JA Evans, PJ Lupo - Birth Defects Research, 2018 - Wiley Online Library
… In the absence of a syndrome or sequence, MCAs may also … known birth defect association,
such as VACTERL (vertebral defectsstudies have been helpful in expanding the spectrum of …

The genetic landscape and clinical implications of vertebral anomalies in VACTERL association

Y Chen, Z Liu, J Chen, Y Zuo, S Liu, W Chen… - Journal of medical …, 2016 - jmg.bmj.com
VACTERL association is a condition comprising multisystem congenital malformations, …
contributing loci, delineating the entire spectrum of the VACTERL association in humans. …

Incidence of congenital spinal abnormalities among pediatric patients and their association with scoliosis and systemic anomalies

PG Passias, GW Poorman, CM Jalai… - Journal of Pediatric …, 2019 - journals.lww.com
VACTERLanomalies. No single underlying cause has been determined for VACTERL
association … In the present study, the highest incidence of other congenital anomalies occurred in …

[HTML][HTML] A genetics-first approach revealed monogenic disorders in patients with ARM and VACTERL anomalies

R Van de Putte, GC Dworschak, E Brosens… - Frontiers in …, 2020 - frontiersin.org
VACTERL features combined; and the VACTERL-… -VACTERL or the VACTERL-LIKE subtype
criteria, but had additional major congenital anomalies outside the VACTERL spectrum (9). …

Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: a retrospective single center study

CI Galarreta, F Vaida, LM Bird - American Journal of Medical …, 2020 - Wiley Online Library
… most common upper gastrointestinal birth defect. Its prevalence … three VACTERL defects to
diagnose VACTERL association, … might overlook the phenotype spectrum of this association, …

Prevalence, pattern, and outcome of congenital anomalies admitted to a neonatal unit in a low-income country—a ten-year retrospective study

B Anane-Fenin, DA Opoku, L Chauke - Maternal and Child Health Journal, 2023 - Springer
… The incidence of congenital abnormalities is highest in low-… , spectrum, trends of neonatal
congenital anomalies and their … study was a 10 year retrospective hospital-based research in …

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

EMMA Martin, A Enriquez, DB Sparrow… - Human molecular …, 2020 - academic.oup.com
… of congenital malformations in humans. LoF WBP11 variants should be considered as a
possible cause of VACTERL association as well as isolated Klippel-Feil syndrome, renal …

Neuraxial analgesia in a parturient with the VACTERL association undergoing labor and vaginal delivery

JA Ramos, SS Shettar, CF James - Revista Brasileira de …, 2018 - SciELO Brasil
… The VACTERL association included the following anomalies in this patient: thoraco-lumbar …
The spectrum of congenital anomalies of the VATER association: an international study. Am …

[HTML][HTML] Congenital heart defects and ciliopathies associated with renal phenotypes

GC Gabriel, GJ Pazour, CW Lo - Frontiers in pediatrics, 2018 - frontiersin.org
VACTERL association is a birth defect associated with at least 3 of the following phenotypes:
vertebral defects, anal atresia, cardiac defects… lines with a wide spectrum of CHD. Using …

A review of genetic factors contributing to the etiopathogenesis of anorectal malformations

K Khanna, S Sharma, N Pabalan, N Singh… - … Surgery International, 2018 - Springer
… Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical
spectrum. … VATER/VACTERL association entitles the presence of at least three of the vertebral …