ABSTRACT
Sirenomelia also known as mermaid syndrome, characterized by fused lower limbs, is a lethal and rare congenital abnormality. This is an extreme example of caudal regression syndrome caused by vascular steal of single umbilical artery. Sirenomelia is found approximately one in 100,000 live births and is usually fatal because of complications associated with pulmonary hypoplasia, abnormal development of the kidneys and urinary bladder. Most of the cases are associated with maternal diabetes and single umbilical artery. We report a case of sirenomelia terminated at 21weeks of gestation due to multiple congenital abnormalities. Antenatal scan of a25-year old primi revealed a single live fetus of 21 weeks gestation with severe olighydramnios, non-visualization of kidneys and bladder and lower part of the spine. This pregnancy was terminated and the specimen sent to the department of anatomy for fetal autopsy. On external examination,a tail like rudimentary single midline lower limb without foot was noted. There were no external genitalia and anal orifice. Internal examination revealed hypoplastic lungs, atrial septal and ventricular septal defects, aberrant right subclavian artery, hypoplastic abdominal aorta distal to the single umbilical artery, complete agenesis of urinary system, rectal agenesis and rudimentary indeterminate gonads. We would like to discuss the clinical features, etio- pathogenesis and review of literature of sirenomelia. Early diagnosis and termination of this lethal congenital anomaly results in minimizing the trauma related to the termination of pregnancy at advanced gestation.
ABSTRACT
Congenital anomaly characterized by an abnormal development of caudal region of the body with different degrees of fusion of lower extremities, bears resemblance of Sirenomelia or mermaid of Greek Mythology. This type of deformity is also known as Symmelia, Symposia, Sympus, Uromelia and Monopodia. It is associated with the single umbilical artery. It is associated with severe malformations of urogenital i.e. renal agenesis and absence of both internal and external genitalia. The aim of this study is to present, a rare congenital malformation Sirenomelia. In this context, we report a case of Sirenomelia illustrating the prenatal sonographic and pathological features. In our study 25 years old primigravida gave birth to still born full term baby, sex could not be identified. The specimen was collected from private nursing home at Ongole, no relevant history of consanguineous marriage or tobacco smoking or drugs taking etc. Fetal USG, X-ray & CT were taken after birth. Fetal autopsy was done; the gonad, thymus and umbilical cord were sent to histopathological examination. The etiopathogenesis and characteristic features of Sirenomelia were discussed with the findings and review of the literature.