Balkan Journal of Medical Genetics

SIRENOMELIA ASSOCIATED WITH HYPOPLASTIC LEFT HEART IN A NEWBORN
Turgut H1, Ozdemir R1,*, Gokce IK1, Karakurt C2, Karadag A1 Turgut H1, Ozdemir R1,*, Gokce IK1, Karakurt C2, Karadag A1
*Corresponding Author: Ramazan Ozdemir, M.D., Division of Neonatology, Department of Pediatrics, Inonu University School of Medicine, Turgut Ozal Medical Center, Campus Street, 44280, Malatya, Turkey. Tel: +90-422-341-0660-5310. Fax: +90-422-341-0736. E-mail: ramazanoz@yahoo.com.tr
page: 91

CASE REPORT

A 25-year-old healthy mother’s infant born at 32 weeks’ gestation by Cesarian section, weighing 1040 gr, was admitted to the newborn intensive care unit because of a congenital anomaly and need for respiratory support. She had a dichorionic diamniotic twin. In the detailed fetal ultrasonography performed in the second trimester, oligohydramnios, single lower extremity, urinary system agenesis and single umbilical artery were detected, and in fetal echocardiography, hypoplastic left heart syndrome was reported. Anthropometric measurements of the patient (height, weight, head circumference) were under three percentile. On physical examination, the urogenital region and anal region fissure were absent and gender was indeterminate. In the upper extremity, arms were in adduction and wrists were in flexion position. There were four fingers on the right hand and two fingers on the left hand. There was a single lower extremity, one webbed foot and two toes (Figure 1). The patient had one large umbilical artery. Radiography of the body was consistent with sirenomelia type IV (Figure 2). In bedside abdominal ultrasonography, urogenital system agenesis, and in echocardiography hypoplastic left heart were detected. However, respiratory and cardiac arrest developed and the patient did not respond to cardio-pulmonary resuscitation. The patient died 4 hours after birth. Postmortem, a 46,XY karyotype was detected. The other healthy twin was followed for 1 week for nutrition and respiratory support and was then discharged without any problems.

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