What question did this study set out to answer?

To determine whether an aberrant abdominal umbilical artery occurs in caudal regression and evaluate its implications for the shared pathogenesis of caudal regression and sirenomelia.

October 26, 2007American Journal of Medical Genetics Part A

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

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Authors

SDSara M. DuesterhoeftSeattle Children's Hospital LELinda M. ErnstNorthShore University HealthSystem JSJoseph R. SiebertSeattle Children's Hospital

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Implication

Case series reveals an aberrant abdominal umbilical artery in caudal regression cases, suggesting a shared developmental spectrum with sirenomelia.

Key Points

To determine whether an aberrant abdominal umbilical artery occurs in caudal regression and evaluate its implications for the shared pathogenesis of caudal regression and sirenomelia.
Examined clinical and anatomical presentations in five cases of caudal regression (N=5).
Conducted a literature review to identify published cases demonstrating similar vascular and structural anomalies.
Identified an aberrant abdominal umbilical artery (persistent vitelline artery) across all five cases of caudal regression despite the absence of lower-limb fusion.
Identified four additional literature cases with identical vessel anomalies, indicating that abnormal umbilical arterial anatomy represents a downstream result of caudal mesoderm deficiency rather than the primary driver of sirenomelia.

Cite This Study

Duesterhoeft et al. (2007) studied this question.

synapsesocial.com/papers/6a79db77123479a499f36eb7 https://doi.org/10.1002/ajmg.a.32028

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Implication

Case series reveals an aberrant abdominal umbilical artery in caudal regression cases, suggesting a shared developmental spectrum with sirenomelia.

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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