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Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association

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Abstract

In this series the authors evaluate clinical, cytogenetic, environmental and inheritance characteristics of neonates with VACTERL association. Twenty-six patients were diagnosed with VACTERL association and had a normal somatometric profile. Fifty-eight percent cases were males. The frequency of each component was: vertebral defects (V), 77 %; anal atresia (A), 62 %; tracheo-esophageal fistula/esophageal atresia (TEF/EA), 58 %; renal anomalies (R), 58 %; limb abnormalities (L), 50 %, and cardiac malformations (C), 42 %. The most frequent combination was VAR (n = 3). Sixteen patients had non-VACTERL anomalies such as bilateral cryptorchidism (n = 4). Two probands (8 %) had first or second-degree relatives with two components. Five patients (19 %) had environmental factors that interacted with ocurrence of VACTERL association. All patients had a normal karyotype. This study contributes to a better characterization of VACTERL phenotype in neonatal period. In spite of predominant sporadic occurrence, underlying genetic susceptibility and environmental influences point to a complex interplay between genes and environmental factors in VACTERL association.

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Acknowledgments

The authors express their gratitude to the participating patients and families, and gratefully acknowledge M. Sc. Rafael A. Salinas Pérez for his support and mentorship.

Contributions

All authors have participated in the conception of the study, in the analysis and interpretation of data, and in the elaboration or critical review of the work. All authors have read and approved the final version of the manuscript. VMS-T will act as guarantor for this paper.

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None.

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Authors and Affiliations

  1. Department of Medical Genetics, Civil Hospital of Guadalajara Fray Antonio Alcalde and University of Guadalajara, Hospital No. 278, Col. El Retiro, 44280,, Guadalajara, Jalisco, Mexico

    Victor M. Salinas-Torres & Guillermo Pérez-García

  2. Department of Radiology, Civil Hospital of Guadalajara Fray Antonio Alcalde and University of Guadalajara, Guadalajara, Jalisco, Mexico

    Nicolás Pérez-García

Authors
  1. Victor M. Salinas-Torres
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  2. Nicolás Pérez-García
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  3. Guillermo Pérez-García
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Correspondence to Victor M. Salinas-Torres.

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Salinas-Torres, V.M., Pérez-García, N. & Pérez-García, G. Clinical, Cytogenetic, Environmental and Inheritance Findings in Mexican Neonates with VACTERL Association. Indian J Pediatr 82, 84–88 (2015). https://doi.org/10.1007/s12098-014-1493-5

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  • DOI: https://doi.org/10.1007/s12098-014-1493-5

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