A Case of Patau Syndrome Diagnosed in Antenatal Care.

Bae, Seong Keun; Jung, Jin Suk; Kee, Hyun Sun; Kim, You Shin; Kwon, Hwang; Park, Ji Hyun; Kim, Tae Hee

Case Report

Korean Journal of Obstetrics & Gynecology 2003;46(8):1634-1638.
Published online August 1, 2003.

A Case of Patau Syndrome Diagnosed in Antenatal Care.

Seong Keun Bae, Jin Suk Jung, Hyun Sun Kee, You Shin Kim, Hwang Kwon, Ji Hyun Park, Tae Hee Kim

¹Department of Obstetrics and Gynecology, College of Medicine, Pochon CHA University, Seoul, Korea.
²Department of Obstetrics and Gynecology, College of Medicine, Soonchunhyang University, Bucheon, Korea.

Abstract

Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It is characterized by holoprosencephaly, cleft lip, cleft palate, cyclopia, polydactyly, congenital heart disease, and intrauterine growth retardation. Because of severity of congenital defects, extremely short survival time is expected. The rare survivors have profound mental retardation and seizures. So life sustaining procedures are generally not attempted. We report a case of Patau syndrome, which was diagnosed by prenatal ultrasonography at 25 weeks gestational age.

Key Words: Patau syndrome, Trisomy