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

Sara M. Duesterhoeft, Linda M. Ernst, Joseph R. Siebert, Raj P. Kapur*

*Corresponding author for this work

Research output: Contribution to journalArticle

44 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)3175-3184
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number24
DOIs
StatePublished - Dec 15 2007

Keywords

  • Caudal regression
  • Sirenomelia
  • Umbilical artery
  • Vascular steal

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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