Document Detail


Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum.
MedLine Citation:
PMID:  17963219     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Sara M Duesterhoeft; Linda M Ernst; Joseph R Siebert; Raj P Kapur
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-06     Completed Date:  2008-01-02     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3175-84     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Affiliation:
Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, Washington, USA.
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MeSH Terms
Descriptor/Qualifier:
Abdomen / abnormalities
Abnormalities, Multiple / diagnosis*
Diseases in Twins
Ectromelia / diagnosis*,  pathology
Fatal Outcome
Female
Humans
Infant, Newborn
Male
Mesoderm / pathology
Pelvis / abnormalities*,  pathology
Phenotype
Syndrome
Umbilical Arteries / pathology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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