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Familial occurrence of the VATER/VACTERL association

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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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Acknowledgments

A.H., C.S., M.D., S.S.M., G.D., E.B., M.M.N., H.R., and M.L. are members of the “Network for the Systematic Investigation of the Molecular Causes, Clinical Implications, and Psychosocial Outcome of Congenital Uro-Rectal Malformations (CURE-Net)”, which is supported by a research grant (01GM08107) from the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung, BMBF). C.S. and G.D. are supported by the BONFOR program of the University of Bonn (grant numbers O-149.0093 and O-149.0096). We thank all family members for their cooperation, as well as the German self-help organization for people with anorectal malformations (SoMA e.V.). We thank Pia Uerdingen for her excellent technical assistance, and Dr. Christine Schmael for her expert advice on the manuscript.

Conflict of interest

The authors have no conflicts of interest to declare.

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Authors and Affiliations

  1. Institute of Human Genetics, University Hospital of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany

    Alina Hilger, Charlotte Schramm, Markus Draaken, Sadaf S. Mughal, Gabriel Dworschak, Enrika Bartels, Per Hoffmann, Markus M. Nöthen & Heiko Reutter

  2. Department of Genomics, Life and Brain Center, University Hospital of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany

    Markus Draaken, Per Hoffmann & Markus M. Nöthen

  3. Department of Neonatology, Children’s Hospital, University Hospital of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany

    Heiko Reutter

  4. Department of Clinical Chemistry and Clinical Pharmacology, University Hospital of Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany

    Michael Ludwig

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  1. Alina Hilger
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  2. Charlotte Schramm
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  3. Markus Draaken
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  10. Michael Ludwig
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Correspondence to Michael Ludwig.

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Hilger, A., Schramm, C., Draaken, M. et al. Familial occurrence of the VATER/VACTERL association. Pediatr Surg Int 28, 725–729 (2012). https://doi.org/10.1007/s00383-012-3073-y

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  • DOI: https://doi.org/10.1007/s00383-012-3073-y

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