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Related Experiment Video

Updated: May 28, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

[Sirenomelia apus. Case report].

Dora Virginia Chávez-Corral¹, Cesar R Aguilar Torres, Margarita Levario-Carrillo

¹Facultad de Medicina, Universidad Autónoma de Chihuahua. dcorral@prodigy.net.mx

Ginecologia Y Obstetricia De Mexico

|October 5, 2011

Summary

This summary is machine-generated.

This case report details a fetus with Sirenomelia, a severe congenital disorder characterized by fused lower extremities and significant cardiac abnormalities. Early diagnosis is crucial due to the condition

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Area of Science:

Medical Genetics
Fetal Medicine
Teratology

Background:

Sirenomelia, a rare congenital malformation, presents a significant diagnostic challenge in prenatal care.
This condition is associated with severe limb fusion and frequently co-occurs with other major organ system abnormalities.
Early and accurate diagnosis is critical for prognosis and management planning.

Observation:

A 21-week gestation fetus was diagnosed with Sirenomelia via transabdominal ultrasound.
Key findings included anhydramnios, cardiac abnormalities (transposition of great vessels), and lumbosacral spine anomalies.
The fetus exhibited fused lower extremities from the hip to a stump, lacking distinct feet.

Findings:

The observed case was classified under Sirenomelia, Type VI (symelia, Apodi apus, monopodio sirenoide, siren ectropodia).
The combination of limb fusion and complex cardiac defects highlights the severity of this disorder.
Ultrasound revealed characteristic features of fused lower limbs and associated visceral anomalies.

Implications:

This case underscores the importance of detailed fetal anomaly screening, particularly in the second trimester.
Accurate prenatal diagnosis of Sirenomelia allows for appropriate genetic counseling and family planning.
Understanding the spectrum of Sirenomelia aids in improving diagnostic accuracy and managing expectations for affected families.