Abstract
Background: Sirenomelia is a condition characterized by the abnormal development of the caudal body of a fetus, with partial or complete lower extremity fusion, also known as Mermaid Syndrome. The anomaly is a serious multisystemic malformation, generally involving the gastrointestinal, genitourinary, cardiovascular and musculoskeletal systems. The exact cause of sirenomelia is unknown, and it is believed that environmental and genetic factors may play a role in the development of this anomaly. The prognosis for sirenomelia is poor, with a median survival of less than a week, and more than half of cases end in stillbirth.
Aim: To report a case of sirenomelia treated in our Hospital.
Method: This is a case report of a pregnant woman treated at the Gynecology and Obstetrics Service of the Hospital Universitário São Francisco na Providência de Deus – HUSF, located in the city of Bragança Paulista – SP, Brazil. Case Report: 17-year-old patient referred to the Fetal Medicine Service after a morphological ultrasound during pregnancy which demonstrated multiple malformations, including renal agenesis and severe oligohydramnios. The child was born prematurely and with sirenomelia, dying four hours after birth. Analysis of the placenta and umbilical cord revealed abnormalities in the fetus implantation, in addition to a single umbilical artery.
Conclusion: Sirenomelia is a rare and fatal congenital anomaly, characterized by fusion of the lower extremities, often associated with additional malformations. Its etiology is poorly understood and possible risk factors include maternal diabetes, exposure to teratogenic drugs, genetic susceptibility, infections and maternal age. Based on the case described, it is suggested that ultrasound is crucial for early diagnosis and decision-making in cases of sirenomelia. Furthermore, raising awareness about preventing teenage pregnancy and controlling blood glucose levels in diabetic pregnant woman are essential to reduce the incidence of the syndrome.
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