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Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum

Authors

  • Sara M. Duesterhoeft,

    1. Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, Washington
    2. Department of Pathology, University of Washington, Seattle, Washington
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  • Linda M. Ernst,

    1. Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Joseph R. Siebert,

    1. Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, Washington
    2. Department of Pathology, University of Washington, Seattle, Washington
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  • Raj P. Kapur

    Corresponding author
    1. Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, Washington
    2. Department of Pathology, University of Washington, Seattle, Washington
    • Department of Laboratories, A-6901, Children's Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105.
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  • How to cite this article: Duesterhoeft SM, Ernst LM, Siebert JR, Kapur RP. 2007. Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression–sirenomelia spectrum. Am J Med Genet Part A 143A:3175–3184.

Abstract

Sirenomelia and caudal regression have sparked centuries of interest and recent debate regarding their classification and pathogenetic relationship. Specific anomalies are common to both conditions, but aside from fusion of the lower extremities, an aberrant abdominal umbilical artery (“persistent vitelline artery”) has been invoked as the chief anatomic finding that distinguishes sirenomelia from caudal regression. This observation is important from a pathogenetic viewpoint, in that diversion of blood away from the caudal portion of the embryo through the abdominal umbilical artery (“vascular steal”) has been proposed as the primary mechanism leading to sirenomelia. In contrast, caudal regression is hypothesized to arise from primary deficiency of caudal mesoderm. We present five cases of caudal regression that exhibit an aberrant abdominal umbilical artery similar to that typically associated with sirenomelia. Review of the literature identified four similar cases. Collectively, the series lends support for a caudal regression–sirenomelia spectrum with a common pathogenetic basis and suggests that abnormal umbilical arterial anatomy may be the consequence, rather than the cause, of deficient caudal mesoderm. © 2007 Wiley-Liss, Inc.

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