Sirenomelia: two cases in Cali, Colombia

Abstract

We report two cases of sirenomelia, a rare congenital defect with a prevalence rate of 1:100 000 births; both cases were observed in Cali, Colombia. Both pregnant women were referred from Buenaventura, Colombia. The expecting mothers shared multiple adverse sociodemographic factors. Their homes were located in a city where the entire population is of low socioeconomic status living under conditions of extreme poverty. They were uneducated, with nutritional deficiencies and no access to drinking water most of the time. Both were exposed to water and fish from a nearby river contaminated with leachate from a poorly managed landfill. A similar relation was previously reported in Cali in 2005 between environmental factors and sirenomelia. We suggest that there is a common aetiological factor of environmental origin between these two sirenomelia cases and propose that exposure to derivatives from landfills should be included among the factors for this rare defect of multifactorial aetiological origin.

Sirenomelia in twin pregnancy

“…Risk factors associated with sirenomelia were as follows: maternal age <20 years or >40 years, [1] maternal diabetes, prenatal exposure to retinoic acid, cadmium, cyclophosphamide, [5] cocaine, landfills water, or lamotrigine. [6]…”

Sirenomelia: A Case Report

“…The risk factors involved are maternal diabetes, tobacco consumption, heavy metal exposure such as Lead, Cadmium, maternal drug abuse like Cocaine, and intake of drugs like Lamotrigine, Retinoic acid, Cyclophosphamide during periconceptional period and the risk decreases with advancing maternal age. 3,7 Its exact etiology is not known but various theories have been proposed for its genesis. 2,3 Some of which are vascular steal hypothesis, defective blastogenesis hypothesis and the pressure theory whereas some consider it to be a most severe form of Caudal Regression Syndrome.…”

“…3,7 Its exact etiology is not known but various theories have been proposed for its genesis. 2,3 Some of which are vascular steal hypothesis, defective blastogenesis hypothesis and the pressure theory whereas some consider it to be a most severe form of Caudal Regression Syndrome. 2,4 Embryologically, it occurs due to caudal blastemal defect with persistence of vitelline artery.…”

“…Sirenomelia also known as Sirenomelia sequence or Mermaid syndrome is a rare and fatal anomalous presentation with incidence of 0.98 to 4.2 per 100000 live birth. [1][2][3] It is characterized by varying degrees of lower limb fusion associated with other anomalies such as renal agenesis, ano-rectal atresia, agenesis of external genitalia and single umbilical artery. 1,2,4 They are more common in males with male to female ratio being 2.7:1.…”

Successful Expectant Management of the Anomalous Fetus with Sirenomelia in Twin Pregnancy: A Case Report and Literature Review

“… 4 Different works of literature associate it with extreme maternal age, 3 maternal diabetes, prenatal exposure to retinoic acid, cadmium, cyclophosphamide, 4 cocaine, landfills water, or lamotrigine. 6 . Here we present successful expectant management of sirenomelia one in twin pregnancy which was diagnosed in the second trimester.…”