다발성 심기형이 동반된 Patau 증후군 1례

Abstract

Authors experienced a case of Patau syndrome in a 1 day old male, born to the mother aged 34 years. He was born with multiple congenital anomalies such as microcephaly, malformed low-set ears, cleft lip and palate, cryptorchidism, anomalous scrotum, micropenis, clenched hand and Rockerbottom feet. Tetralogy of Fallot and atrioventricular canal defect were detected by echocardiography, and chromosomal analysis showed 47 chromosomes with 13 trisomy. He died at 9th day of life. A brief review of the literature was made.