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Scientific article
Case report
English

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

Contributors

Rougemont-Pidoux, Anne-Laure; Bouron-Dal Soglio, Dorothee; Desilets, Valerie; Jovanovic, Mubina; Perreault, Gilles; Laurier Oligny, Luc; Fournet, Jean-Christophe

Published in

American journal of medical genetics. Part A, vol. 146A, no. 11, p. 1470-1476

Publication date

2008

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.

Keywords

  • Aborted Fetus/*abnormalities
  • Ectromelia/*embryology
  • Fetal Development
  • Humans
  • Situs Inversus/*embryology
  • Spine/abnormalities
  • Ultrasonography, Prenatal
  • Urogenital Abnormalities/embryology

UNIGE affiliation entities

Citation (ISO format)

ROUGEMONT-PIDOUX, Anne-Laure et al. Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. In: American journal of medical genetics. Part A, 2008, vol. 146A, n° 11, p. 1470–1476. doi: 10.1002/ajmg.a.32081

Main files (1)

Article

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Additional URL for this publication

http://onlinelibrary.wiley.com/store/10.1002/ajmg.a.32081/asset/32081_ftp.pdf?v=1&t=gyd0w6bi&s=6824a9b2d99873013882ec1786ec9328638166c1

Journal ISSN

1552-4825
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Technical informations

Creation

27/03/2012 09:23:04

First validation

27/03/2012 09:23:04

Update

14/03/2023 17:19:53

Status update

14/03/2023 17:19:53

Last indexation

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