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01.07.2012 | Case Report

Familial occurrence of the VATER/VACTERL association

verfasst von: Alina Hilger, Charlotte Schramm, Markus Draaken, Sadaf S. Mughal, Gabriel Dworschak, Enrika Bartels, Per Hoffmann, Markus M. Nöthen, Heiko Reutter, Michael Ludwig

Erschienen in: Pediatric Surgery International | Ausgabe 7/2012

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Abstract

The acronym VATER/VACTERL association is used to describe the non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We report a familial case of VATER/VACTERL association in which both the index case and her maternal uncle displayed four major component features of the disorder. A systematic literature search identified 12 previously described familial cases. However, on comparison, both members fulfilled the diagnostic criteria for VATER/VACTERL association only in one instance, and ours is the second such report. Although, a SNP array-based analysis identified no causal genomic alteration, the findings in the present family suggest that genetic factors are implicated in the development of the disorder.

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Titel: Familial occurrence of the VATER/VACTERL association
verfasst von: Alina Hilger
Charlotte Schramm
Markus Draaken
Sadaf S. Mughal
Gabriel Dworschak
Enrika Bartels
Per Hoffmann
Markus M. Nöthen
Heiko Reutter
Michael Ludwig
Publikationsdatum: 01.07.2012
Verlag: Springer-Verlag
Erschienen in: Pediatric Surgery International / Ausgabe 7/2012
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI: https://doi.org/10.1007/s00383-012-3073-y

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Familial occurrence of the VATER/VACTERL association

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