Document Detail


Familial occurrence of the VATER/VACTERL association.
MedLine Citation:
PMID:  22422375     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Alina Hilger; Charlotte Schramm; Markus Draaken; Sadaf S Mughal; Gabriel Dworschak; Enrika Bartels; Per Hoffmann; Markus M Nöthen; Heiko Reutter; Michael Ludwig
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-3-16
Journal Detail:
Title:  Pediatric surgery international     Volume:  -     ISSN:  1437-9813     ISO Abbreviation:  -     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-3-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8609169     Medline TA:  Pediatr Surg Int     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Institute of Human Genetics, University Hospital of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.
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