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Sirenomelia associated with Hypoplastic Left Heart in a Newborn.
Balkan Journal of Medical Genetics : BJMG 2017 June 31
Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate. The arms were in adduction and wrist in flexion position with four fingers on the right hand and two fingers on the left hand. There was a single lower extremity with a webbed single foot and two toes consistent with sirenomelia type IV radiologically. Abdominal ultrasonography showed urogenital system agenesis and echocardiography detected hypoplastic left heart. However, the patient died 4 hours after birth. The other twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.
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