Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

RH Hsu, CH Lee, YH Chien, SP Lin… - … Genetics & Genomic …, 2023 - Wiley Online Library
… autism spectrum disorder (ASD). However, there was no difference between the two groups.
… have VACTERL association. Although the genetic etiologies of VACTERL association have …

Management of esophageal lung in a patient with VACTERL anomalies

KN Harrell, J Brent Moss, S Dave Bhattacharya… - 2020 - journals.sagepub.com
VACTERL association is a term used to describe nonrandomly associated congenital defects
… part of the spectrum of congenital bronchopulmonary malformations. Surgical intervention, …

[PDF][PDF] The Hidden Iceberg. Case Series and Article Review”

A Gafa, Mohamed Shoukry.“VACTERL Association - EC Paediatrics, 2024 - ecronicon.net
… features of VACTERL association once there is clinical evidence of congenital anomaly to
… ; whilst only one patient had the full spectrum of features [12]. The most commonly observed …

Exome sequencing and identification of phenocopies in patients with clinically presumed hereditary nephropathies

KM Riedhammer, MC Braunisch, R Günthner… - American journal of …, 2020 - Elsevier
… The aim of this study was to evaluate the spectrum and … kidney disease, Alport syndrome,
congenital anomalies of the kidney … nephrotic syndrome, VACTERL association, and “other.” …

[PDF][PDF] Cardiac, Renal and Gastrointestinal Anomalies in a Neonate: Could this be VACTERL Association

U Idholo, CO Duru, O Okosun, IIT Oremodu… - … : An International …, 2020 - academia.edu
… Our patient presented with a constellation of congenital defects which could all fit into the
criteria for VACTERL association, … Spectrum of congenital anomalies among VACTERL

[PDF][PDF] Sirenomelia with vertebral, anal, cardiac defect, tracheo-esophageal fistula, renal anomalies, limb abnormalities association: a case report

MR Behera, S Das, P Das - International Journal of Contemporary …, 2020 - researchgate.net
… revealed complete spectrum of VACTERL association. … VACTERL association is typically
defined by the presence of at least three of the following congenital anomalies: vertebral defects

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

R Belanger Deloge, X Zhao, PN Luna… - European Journal of …, 2023 - nature.com
… delay, intellectual disability and autism spectrum disorder become apparent. This is also …
VACTERL association, and de novo epivariants have been associated with congenital anomaly

Clinical characteristics of anorectal malformations in Taiwan: A single-center retrospective chart review

HC Tsai, MY Guo, SW Hu, WL Yeh, CH Ko… - Tungs' Medical …, 2023 - journals.lww.com
… we sought to characterize the spectrum of clinical presentation … this study, however, we did
find two cases with VACTERL … present with associated congenital anomalies. Advances in the …

[PDF][PDF] Prenatal diagnosis of congenital fetal malformations medically terminated: a retrospective analysis

P Dasari, P Aggrawal - Hindu, 2021 - academia.edu
… involved women with congenital malformations who underwent … gestational age and spectrum
of malformations and results were … In the present study VACTERL constituted 4.5%. The …

P285 The association of congenital anomalies in patients with congenital hypothyroidism in government tertiary care centers under dubai health authority, UAE: 2000 …

FA Mazahir, MM Khadora - 2019 - adc.bmj.com
… A wide spectrum of multiple ETAs was observed as well as a number of syndromes … Sakati
syndrome, Turner syndrome, William syndrome, VATER association and Congenital Disorder …