Abstract
Sirenomelia (otherwise known as Mermaid Syndrome), is a very rare congenital anomaly characterized by variable fusion of lower limbs along with thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and gastrointestinal tract malformations, with an incidence of 0.8 to 1 case per 100,000 births. This anomaly has a strong association with maternal diabetes, and some researchers consider it to be a severe form of caudal regression syndrome. It is a lethal anomaly, with half of the cases being stillborn and most cases involving live births dying within a few days. We present here a radiological evaluation of a case of sirenomelia in a 28-year-old primigravida with history of occasional cocaine and alcohol use. The fetus had duodenal atrasia, bilateral renal agenesis, caudal dysgenesis, imperforate anus and absent genitalia, as determined by fetal sonogram and fetal magnetic resonance imaging (MRI), which had been carried out for better evaluation. Fetal sonogram revealed sacral dysgenesis, and double bubble sign suggestive of duodenal atresia. Fetal MRI showed bilateral renal agenesis, duodenal atresia and single hypoplastic lower limb. One of two upper limbs was also found to be hypoplastic. After delivery, the stillborn was examined externally. There were no external genitalia and the anus was imperforate. There was a single hypoplastic lower limb. One of two upper limbs was also hypoplastic. Early diagnosis of sirenomelia is necessary for safe termination of pregnancy. However, complete evaluation of a sirenomelia fetus is hindered by associated severe oligohydramnios. Fetal MRI has no such constraints and can demonstrate various anomalies in a greater detail than fetal sonogram.
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