Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Authors

  • Anne-Laure Rougemont,

    1. Department of Pathology, CHU Sainte-Justine, Montreal, Quebec, Canada
    2. Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec, Canada
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  • Dorothée Bouron-Dal Soglio,

    1. Department of Pathology, CHU Sainte-Justine, Montreal, Quebec, Canada
    2. Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec, Canada
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  • Valérie Désilets,

    1. Division of Medical Genetics, CHU Sainte-Justine, Montreal, Quebec, Canada
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  • Mubina Jovanovic,

    1. Department of Pathology, CHU Sainte-Justine, Montreal, Quebec, Canada
    2. Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec, Canada
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  • Gilles Perreault,

    1. Department of Radiology, CHU Sainte-Justine, Montreal, Quebec, Canada
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  • Luc Laurier Oligny,

    1. Department of Pathology, CHU Sainte-Justine, Montreal, Quebec, Canada
    2. Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec, Canada
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  • Jean-Christophe Fournet

    Corresponding author
    1. Department of Pathology, CHU Sainte-Justine, Montreal, Quebec, Canada
    2. Department of Pathology and Cellular Biology, Université de Montréal, Montreal, Quebec, Canada
    • Department of Pathology, CHU Sainte-Justine, 3175, Cŏte-Sainte-Catherine, Montréal, Québec, Canada H3T 1C5.
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  • How to cite this article: Rougemont AL, Bouron-Dal Soglio D, Désilets V, Jovanovic M, Perreault G, Oligny LL, Fournet JC. 2008. Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis. Am J Med Genet Part A 146A:1470–1476.

Abstract

Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum. The two main debated pathogenic hypotheses are an aberrant vascular supply versus a primary axial mesoderm defect. We present the autopsy findings of two fetuses of non-diabetic mothers, with normal karyotype. Both fetuses presented situs inversus associated with a CD, in one case consisting of sirenomelia, establishing a very rare association profile that might be random. This association also suggests the occurrence of a common pathogenic mechanism, in accordance to recent genetic data, such as displayed in the Kif3A murine mutation phenotype. Some cases of sirenomelia and CD could represent developmental field defects of blastogenesis involving the caudal mesoderm, rather than being related to vascular insufficiency. © 2008 Wiley-Liss, Inc.

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