A rare case report of sirenomelia

Dr Abhishek Kumar,Dr Snehlata Snehlata,Dr Manjula Srivastava

doi:10.17511/joog.2019.i05.05

Abstract

Mermaid syndrome is a rare congenital fetal anomaly with characteristic feature of complete or partial fusion of lower limbs. Although, this syndrome is incompatible with life due to the association of several congenital defect and malformation. In our case Patient was a 31.3 week. A 1.1 kg, preterm infant of unidentified sex was born, a live born, normally delivered at preterm by a 25-year-old primigravida of lower socioeconomic status. Examination of the baby revealed caudal dysgenesis having apparent fusion of the legs into a single lower limb the most severe form, only a single bone is present,with no indication of legs or feet. There was no identifiable external genitalia and anus. Incidentally the infant died after 45 minutes post birth and we report this case due to their rarity and preterm live birth.

Highlights

Sirenomelia is known as Mermaid Syndrome is a rare and fatal congenital defect and malformation of uncertain etiology. characterized by varying degrees of lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary, and anorectal atresia[1]
The disorder was thought to be an extreme case of Caudal Regression Syndrome (CRS), it was classified to be considered a separate condition
Fig-1-A,B: Photograph of the baby showing birth defect of the lower body characterized by the apparent fusion of the legs into a single lower limb, hypoplastic thumb, absent external genitalia and features of Potter's facies

Summary

Introduction

Sirenomelia is known as Mermaid Syndrome is a rare and fatal congenital defect and malformation of uncertain etiology. characterized by varying degrees of lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary, and anorectal atresia[1]. On palpation uterus was 28 weeks with regular fetal heart rate, external ballottement present, P/V-Os was 3-4 cm dilated, fully effaced, BOM forming, station ‘0, presentation was cephalic She delivered a preterm baby with weight was 1.1Kg, with multiple congenital anomalies. The bilateral hypoplastic thumb, birth defect of the lower body characterized by the apparent fusion of the legs into a single lower limb the most severe form. Fig-1-A,B: Photograph of the baby showing birth defect of the lower body characterized by the apparent fusion of the legs into a single lower limb, hypoplastic thumb, absent external genitalia and features of Potter's facies (prominent epicanthal folds, small slit-like mouth, receding chin, downward curved nose, and low-set soft dysplastic ears). Fig-2: X-Ray lower abdomen showing single limb with rudimentary lower limbs bone with no anal opening

Discussion

Findings

Conclusion