Sirenomelia (Mermaid Syndrome)

Objective: To report a rare fetal abnormalities case Method: Case report Case: Reported case of a 37-year-old patient came to the emergency room at RSIA Siti Hawa Padang with complaints of inpartu signs in the last 8 hours before entering the hospital. After the examination, the diagnosis was G3P2A0L3 35-36 weeks of preterm parturient active phase of first stage + twice previous CS + breech presentation. Then, the patient was planned for an emergency CS at 07.50 am. Born babies with genitalia form was not identified, BW: 2030 grams, BH: 30 cm, Scoring Apgar: 3/5, there are congenital abnormalities in the lower extremity of the baby like mermaid form. After observing the baby’s room, the baby was declared dead at 09.50 am. Conclusion: Sirenomelia is a rare congenital defect that has a fatal impact, characterized by varying degrees of fusion in the lower limbs, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and anorectal atresia. Because of the poor prognosis, management of sirenomelia will be very difficult with unexpected results. Key words : Fetal abnormalities, Sirenomelia, Mermaid syndrome.

A case report of sirenomelia with two umbilical arteries: an unusual finding in a rare case

Sirenomelia also known as Mermaid syndrome is a rarely encountered fusion anomaly of the caudal region of body often associated with Potter’s facies, single umbilical artery and various visceral abnormalities which make it irreconcilable with life. Here we report a case of sirenomelia delivered in our tertiary care hospital by lower segment cesarean section to a 24 year old third gravida with no previous live issues. No high risk factors could be identified with the mother including diabetes mellitus. Baby was born alive with Potter’s facies. Both the lower limbs were merging into each other like a mermaid’s tail (hence called mermaid syndrome). Sex of the baby could not be identified and the urogenital and anal orifices were absent. Umbilical cord stump had two umbilical arteries. The baby died after 20 hours of life. There appears to be no definitive modality for diagnosing sirenomelia in the antenatal period. However, if a patient has consistently low AFI without any history of leaking per vaginum, high resolution USG or colour Doppler should be done at the earliest to look for the cause.

Mermaid syndrome associated with VACTERL-H syndrome

Mermaid syndrome or sirenomelia is an extremely rare congenital malformation with an incidence between 1.5 and 4.2 per 1,000,000 pregnancies. Association of mermaid syndrome with VACTERL-H syndrome is extremely rare, with only two cases reported so far in the literature. We present a new case of type I sirenomelia associated with VACTERL-H syndrome and review the relevant literature.  A 15-year-old female patient was admitted to the Department of Pathological Pregnancy at St George University Hospital, Plovdiv with progredient abortion during her first pregnancy. She had low socioeconomic status, negative history of concomitant diseases and addictions. The patient avoided prophylactic intake of folic acid during her pregnancy. Prenatal ultrasound found a malformative fetus. Consequently, magnetic resonance imaging was performed which established the presence of hydrocephalus and defects in the lower part of the spine. These pathological findings indicated interruption of pregnancy at 20 weeks of gestation. The fetopathological examination found sirenomelia type I associated with myelomeningocele, hydrocephalus, anal imperforation, single umbilical artery, bilateral renal and ureteric agenesis, bladder agenesis, tracheo-esophageal fistula, agenesis of external genitals, monkey fold of the left palm of the hand, also known as VACTERL-H syndrome. Our case demonstrates that mermaid syndrome and VACTERL-H syndrome represent different manifestations of a single pathological process that results in disorders of the blastogenesis at different stages during embryonic development. 

Sirenomelia with Potter syndrome: a case report and review of literature

Sirenomelia or mermaid syndrome is a rare congenital anomaly characterized by variable degree of fusion of lower extremities. Awareness to this rare condition is important for prenatal diagnosis and prognosticating the fetus. The exact etiopathogenesis is still an area of research. Two pathogenic hypotheses are the vascular steal hypothesis and the defective blastogenesis hypothesis with exceptions reported in literature.

Sirenomelia, the Mermaid syndrome: a case report

Sirenomelia, also known as mermaid syndrome, is a rare congenital anomaly characterized by a single lower extremity which is associated with abnormalities in other organ systems, commonly affecting the gastrointestinal and the urogenital systems. It is sporadic with no increased risk in subsequent pregnancies. In almost all the cases of sirenomelia, a single umbilical artery (SUA) is present which arises from the abdominal aorta. The exact etiology of sirenomelia is unknown. Sirenomelia can be confidently diagnosed in the 1st trimester while the diagnosis in the 2nd and 3rd trimesters is difficult due to the lack of amniotic fluid in the later gestation. Antenatal diagnosis of this universally lethal condition is desirable so that possible termination of pregnancy can be offered at the earliest.