Abstract
Sirenomelia is a rare congenital malformation that results in the fusion of the lower limbs together with multiple visceral anomalies. We report a case of sirenomelia observed in Mauritius and the different findings seen in the baby. The baby had fused lower extremities and bony structures for each leg were present. The umbilical cord consisted of a single artery and one vein. The external genitalia was absent and an imperforate anus was also seen. An x-ray revealed poorly expanded lungs and two distinct sets of femur and tibia were seen on imaging. However, a fused fibula and a fused talus were also noted. Multiple theories have been suggested for the pathogenesis of this condition, and despite recent progress in pathology, this condition remains debated.
Highlights
IntroductionKnown as sirenomelia, is a rare congenital malformation that is often fatal [1]
Mermaid syndrome, known as sirenomelia, is a rare congenital malformation that is often fatal [1]
Sirenomelia is a rare congenital malformation that results in the fusion of the lower limbs together with multiple visceral anomalies
Summary
Known as sirenomelia, is a rare congenital malformation that is often fatal [1]. The most common feature seen in sirenomelia is the complete or partial fusion of the lower limbs into a single lower limb, giving it a mermaid resemblance. The pregnancy was from a non-consanguineous union with a 25-year-old male. She was not compliant with her antenatal consultations and a late diagnosis of possible sirenomelia was made when she had her first ultrasound on admission. Absent external genitalia (red arrow) and fused lower extremities (black arrow) were seen in the newborn. Fused lower extremities (yellow arrow) on examination and two palpable sets of femur and tibia. Two different sets of femur and tibia were present (pink arrows); a fused fibula (green arrow) and fused talus (blue arrow) were noted
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