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

LT Forero, R Henderson, C Galarreta… - American Journal of …, 2024 - Wiley Online Library
… other specialties are areas for future research. We conclude that genital anomalies are part
of the VACTERL association and propose VACTEGRL or VACTERL+G as the new acronym. …

[HTML][HTML] Increasing prevalence and high risk of associated anomalies in congenital vertebral defects: a population-based study

S Heiskanen, J Syvänen, I Helenius… - Journal of Pediatric …, 2022 - journals.lww.com
association in cases where three or more of these anomalies are present. In our cohort,
VACTERL association … the cases in our study were terminated because of fetal anomaly which is …

[HTML][HTML] High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

H Reutter - European Journal of Human Genetics, 2023 - nature.com
… 75% of individuals to present with additional anomalies [4]. Most of these co-occurring
anomalies belong to the congenital anomaly spectrum of the VATER/VACTERL association. The …

Anorectal malformations, associated congenital anomalies and their investigation in a South African setting

E vd Merwe, S Cox, A Numanoglu - Pediatric Surgery International, 2017 - Springer
… Twenty-five patients were noted to be dysmorphic and 7 to have confirmed VATER/VACTERL
association as defined by having 3 or more of these anomalies [6]. Five children were …

Underlying genetic factors of the VATER/VACTERL association with special emphasis on the “Renal” phenotype

H Reutter, AC Hilger, F Hildebrandt, M Ludwig - Pediatric Nephrology, 2016 - Springer
… of the complete spectrum of congenital renal anomalies per se. … VATER/VACTERL association
in a combined registry of infants with multiple congenital anomalies from 17 birth defects

… in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo‐Esophageal fistula, Renal anomalies, Limb abnormalities) association

BD Solomon, MS Raam… - Congenital …, 2011 - Wiley Online Library
… , and describe the spectrum of GU anomalies in these patients. We show clinical evidence
VACTERL association or VATER association prior to inclusion in our study. For this specific …

Maternal risk factors for the VACTERL association: A EUROCAT case–control study

R van de Putte, IALM Van Rooij… - … defects research, 2020 - Wiley Online Library
… the STRICT-VACTERL or the VACTERL-LIKE subtype criteria, but have additional …
congenital anomalies outside the VACTERL spectrum. In addition, we introduced the NO-VACTERL

Associated congenital anomalies between neonates with short-gap and long-gap esophageal atresia: a comparative study

S Aslanabadi, K Ghabili, M Rouzrokh… - International journal …, 2011 - Taylor & Francis
study was to compare VACTERL and non-VACTERL-type … found the VACTERL association
in 71% of the studied population. … -VACTERL-type anomalies, but not the VACTERL spectrum

… mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations

GC Dworschak, M Draaken, C Marcelis… - American Journal of …, 2013 - Wiley Online Library
… Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging … congenital
anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], …

Familial occurrence of the VATER/VACTERL association

A Hilger, C Schramm, M Draaken, SS Mughal… - … surgery international, 2012 - Springer
… , renal malformations (R), and limb defects (L). We report a familial case of VATER/VACTERL
association in … four major component features of the disorder. A systematic literature search …