Visceral anomalies in prenatally adriamycin-exposed rat fetuses: a model for the VATER association

J Merei, S Hasthorpe, P Farmer, JM Hutson - … surgery international, 1999 - Springer
… The aim of this study was to document the visceral anomalies in rat … congenital defects in
humans with the VATER association. The results revealed a spectrum of very similar anomalies. …

[PDF][PDF] VACTERL association: A Case Report of a congenital malformations

R Saini, L Saini, P Saini, RN Sehra - academia.edu
… : study based on data from 4 malformation registers. Am J Med Genet 2001;101:26-32. [7] …
: The spectrum of congenital anomalies of the VATER Association : an international study. Am …

Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders

, … Boston Genotype Phenotype Study … - American Journal of …, 2010 - Wiley Online Library
congenital anomalies including vertebral anomalies in the form of a VACTERL association.
… Our finding that NRXN1 is also associated with autism and developmental disorders adds …

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

F Kause, R Zhang, M Ludwig… - … defects research, 2019 - Wiley Online Library
… Around 60% of ARM patients present with co-occurring congenital malformations, most of
which belong to the congenital anomaly spectrum of the VATER/VACTERL association. The …

Prevalence and survival of patients with anorectal malformations: a population-based study

M Cassina, FF Leon, M Ruol, SF Chiarenza… - Journal of Pediatric …, 2019 - Elsevier
… ARMs have additional congenital defects, mainly those included in the VACTERL association
(… characterized by 3 or more defects of the VACTERL spectrum associated with additional …

[PDF][PDF] Syndromology of anorectal malformations revisited: from patterns of associated malformations to the recognition of syndromes

S Berger, M Goppl, Z Zachariou - World J Pediatr, 2005 - wjpch.com
… If no syndrome could be identified and 3 or more malformations, which belong to … spectrum
of a VACTERL association, were present, the malformation pattern was classified as VATER

… , anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome …

T Bjørsum-Meyer, M Herlin, N Qvist… - Journal of medical case …, 2016 - Springer
… The first sign of the VACTERL association may be the … for other defects in the VACTERL
association [16, 17]. … MRKH syndrome (OMIM 277000) is a congenital disorder of the Müllerian …

Additional congenital defects in anorectal malformations

EAM Hassink, P Rieu, BCJ Hamel, R Severijnen… - European journal of …, 1996 - Springer
… ) with congenital anomalies in symptom categories according level of anorectal malformation.
… Of our patients with ARM, 44% were classified as examples of the VACTERL-association. …

The VACTERL association: lessons from the Sonic hedgehog pathway

JH Kim, PCW Kim, CC Hui - Clinical genetics, 2001 - Wiley Online Library
… to a spectrum of developmental anomalies in mice strikingly similar to those of VACTERL. In
this … We propose that VACTERL could be caused by defective Shh signaling during human …

Associated malformations in patients with anorectal anomalies

C Stoll, Y Alembik, B Dott, MP Roth - European journal of medical genetics, 2007 - Elsevier
… of the broader spectrum of anorectal malformations (ARM) … studied was obtained by our
registry of congenital anomalies is … of the component anomalies of the VACTERL association. In …