Sirenomelia Apus: A Rare Deformity
A 34-week, 1400-g preterm infant of unidentified sex was born to a 23-year-old primigravida mother with no significant past medical history. The infant was delivered by assisted breech vaginal delivery with an APGAR's score of 3 and 5 at 1 and 5 minutes, respectively. On physical examination of the infant showed single umbilical artery with multiple external deformities including a single lower tapering web like lower extremity with no feet and absence of external genitalia and anus. Additionally, Potter's facies i.e., prominent infraorbital folds, small slit like mouth, receding chin, downward curved nose, and low set soft dysplastic ears were seen [Figures and ]. Radiographic picture revealed single distal limb [Figures and ]. The infant expired after four hours due to severe respiratory distress. An autopsy was performed which showed severe bilateral lung hypoplasia, absence of the bladder, ureters, and bilateral kidneys. Uterus and vagina were atretic but ovaries and fallopian tubes were normal, rectum and anus were atretic. Death was attributed to pulmonary hypoplasia along with renal anomalies, and a diagnosis of sirenomelia was given.