Literature DB >> 20683998

Analysis of component findings in 79 patients diagnosed with VACTERL association.

Benjamin D Solomon1, Daniel E Pineda-Alvarez, Manu S Raam, Sophia M Bous, Amelia A Keaton, Jorge I Vélez, Derek A T Cummings.   

Abstract

VACTERL association is a relatively common condition, though the causes remain poorly understood. We present data on 79 patients diagnosed with VACTERL association and perform statistical analysis on a selected subset of 60 patients with at least three component features, and who, after review, did not meet criteria for a likely alternate diagnosis. Considered individually, no two component features are significantly associated, but several multivariate statistical techniques suggest novel patterns of the co-occurrence of component features, and latent class cluster analysis demonstrates the presence of five major subgroups of patients. These findings have implications for both our understanding of VACTERL association and for the approach to research involving this condition. Copyright 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20683998      PMCID: PMC2930065          DOI: 10.1002/ajmg.a.33572

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  24 in total

Review 1.  The VACTERL association: lessons from the Sonic hedgehog pathway.

Authors:  J Kim; P Kim; C C Hui
Journal:  Clin Genet       Date:  2001-05       Impact factor: 4.438

2.  Extending the scope of the VATER association: definition of the VATER syndrome.

Authors:  S A Temtamy; J D Miller
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

3.  The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects.

Authors:  L Quan; D W Smith
Journal:  J Pediatr       Date:  1973-01       Impact factor: 4.406

Review 4.  Hedgehog in the human: a possible explanation for the VATER association.

Authors:  D Arsic; B Q Qi; S W Beasley
Journal:  J Paediatr Child Health       Date:  2002-04       Impact factor: 1.954

5.  A syndrome of multiple congenital anomalies associated with teratogenic exposure.

Authors:  A H Nora; J J Nora
Journal:  Arch Environ Health       Date:  1975-01

6.  A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

Authors:  W Reardon; X P Zhou; C Eng
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

Review 7.  VATER non-random association of congenital malformations: study based on data from four malformation registers.

Authors:  K Källén; P Mastroiacovo; E E Castilla; E Robert; B Källén
Journal:  Am J Med Genet       Date:  2001-06-01

8.  Antenatal manifestations of mitochondrial respiratory chain deficiency.

Authors:  Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale De Lonlay
Journal:  J Pediatr       Date:  2003-08       Impact factor: 4.406

9.  Anorectal anomalies associated with or as part of other anomalies.

Authors:  Alfred Cuschieri
Journal:  Am J Med Genet       Date:  2002-06-15

Review 10.  Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

Authors:  Charles Shaw-Smith
Journal:  Eur J Med Genet       Date:  2009-10-12       Impact factor: 2.708

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  28 in total

1.  Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.

Authors:  S Siebel; B D Solomon
Journal:  Mol Syndromol       Date:  2013-02

2.  Considering the Embryopathogenesis of VACTERL Association.

Authors:  R E Stevenson; A G W Hunter
Journal:  Mol Syndromol       Date:  2013-02

3.  Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.

Authors:  B D Solomon; D E Pineda-Alvarez; D W Hadley; N F Hansen; A Kamat; F X Donovan; S C Chandrasekharappa; S-K Hong; E Roessler; J C Mullikin
Journal:  Mol Syndromol       Date:  2013-02

4.  Clinical, cytogenetic, environmental and inheritance findings in Mexican neonates with VACTERL association.

Authors:  Victor M Salinas-Torres; Nicolás Pérez-García; Guillermo Pérez-García
Journal:  Indian J Pediatr       Date:  2014-07-11       Impact factor: 1.967

Review 5.  An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association.

Authors:  Benjamin D Solomon; Linda A Baker; Kelly A Bear; Bridget K Cunningham; Philip F Giampietro; Colleen Hadigan; Donald W Hadley; Steven Harrison; Marc A Levitt; Nickie Niforatos; Scott M Paul; Cathleen Raggio; Heiko Reutter; Nicole Warren-Mora
Journal:  J Pediatr       Date:  2013-12-12       Impact factor: 4.406

6.  Personalized genomic medicine: lessons from the exome.

Authors:  Benjamin D Solomon; Daniel E Pineda-Alvarez; Donald W Hadley; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Robert W Blakesley; Brendan Lanpher; Stephanie Mayfield Gibson; Murat Sincan; Settara C Chandrasekharappa; James C Mullikin
Journal:  Mol Genet Metab       Date:  2011-07-05       Impact factor: 4.797

7.  Genetic Testing in a Cohort of Complex Esophageal Atresia.

Authors:  Eliane Beauregard-Lacroix; Jessica Tardif; Emmanuelle Lemyre; Zoha Kibar; Christophe Faure; Philippe M Campeau
Journal:  Mol Syndromol       Date:  2017-06-16

Review 8.  Clinical geneticists' views of VACTERL/VATER association.

Authors:  Benjamin D Solomon; Kelly A Bear; Virginia Kimonis; Annelies de Klein; Daryl A Scott; Charles Shaw-Smith; Dick Tibboel; Heiko Reutter; Philip F Giampietro
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

9.  Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum.

Authors:  Sigrid Bairdain; David Zurakowski; Sara O Vargas; Nicole Stenquist; Molly McDonald; Meghan C Towne; David T Miller; Russell W Jennings; David B Kantor; Pankaj B Agrawal
Journal:  Neonatology       Date:  2016-10-19       Impact factor: 4.035

10.  Novel FANCI mutations in Fanconi anemia with VACTERL association.

Authors:  Sharon A Savage; Bari J Ballew; Neelam Giri; Settara C Chandrasekharappa; Najim Ameziane; Johan de Winter; Blanche P Alter
Journal:  Am J Med Genet A       Date:  2015-11-21       Impact factor: 2.802

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