ABSTRACT
An association of Amniotic Band Disruption Sequence and Mermaid Syndrome in a newborn having multiple congenital anomalies is being reported. The newborn had aberrant string like tissues attached to the amputed fingers and toes. Adhesions of amniotic bands had disrupted the fetal parts especially anteriorly in the midline, causing multiple anomalies. Apart from these features of Amniotic Band Disruption Sequence, the newborn had complete fusion of the lower limbs by cutaneous tissue, a characteristic of Mermaid Syndrome (Sirenomelia). Associated malformations were anal stenosis, rectal atresia, small horseshoe kidney, hypoplastic urinary bladder and a bicomuate uterus. The single umbilical artery had a high origin, arising directly from the aorta just distal to the celiac axis, which is unique to sirenomelia. Theories put forward regarding the etiopathogenesis of both the conditions are discussed.
Subject(s)
Abnormalities, Multiple/pathology , Amniotic Band Syndrome/pathology , Craniofacial Abnormalities/pathology , Ectromelia/etiology , Fatal Outcome , Female , Humans , Infant, Newborn , Limb Deformities, Congenital/pathology , SyndromeABSTRACT
A rare case of sirenomelia in a LBW, IUGR & second of a dizygotic twin having multiple congenital anomalies is being reported. Apart from the features of sirenomelia, the newborn had a single umbilical artery, radial hypoplasia, total anorectal & urogenital agenesis and undetermined sex. The single umbilical artery had a normal origin from the iliac artery. There was no Vitelline arterial steal phenomenon. Theories put forward regarding etiopathogenesis are discussed. We conclude that the anomalies in the present case are difficult to be explained with earlier proposed theories. This puts an emphasis on reconsideration of old theory of genetic injury to the embryo by unknown factors.