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Pediatr Surg Int. 2012 Jul;28(7):725-9. doi: 10.1007/s00383-012-3073-y. Epub 2012 Mar 16.

Familial occurrence of the VATER/VACTERL association.

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Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.


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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