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

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 v...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-12, Vol.143A (24), p.3175-3184
Main Authors: Duesterhoeft, Sara M., Ernst, Linda M., Siebert, Joseph R., Kapur, Raj P.
Format: Article
Language:English
Subjects:
Abdomen - abnormalities
Abnormalities, Multiple - diagnosis
Biological and medical sciences
caudal regression
Diseases in Twins
Ectromelia - diagnosis
Ectromelia - pathology
Fatal Outcome
Female
Humans
Infant, Newborn
Male
Medical genetics
Medical sciences
Mesoderm - pathology
Pelvis - abnormalities
Pelvis - pathology
Phenotype
sirenomelia
Syndrome
Umbilical Arteries - pathology
umbilical artery
vascular steal
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32028