All issues > Volume 29(2); 1986

Case Report

J Korean Pediatr Soc. 1986;29(2):225-231. Published online February 28, 1986.

Two Cases of Patau Syndrome.

Eun Hee Cho¹, Byung Ho Lim¹, Ki Bok Kim¹

¹Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea

Abstract

Two cases of Patau syndrome which had been confirmed by cytogenetic analysis at Kwangju Christian Hospital was presented. Two babies were low-birth-weight infants born to mothers aged 30 and 27, respectively. No history of drugs, nor any exposure to radiation or other teratogenic agents were recalled by their mothers. No familial history of congenital anomalies were noted. They expired immediately after birth. On physical examination, the babies had multiple anomalies such as microcephaly, microphthalmia, cyclopia, low set ears, malformed nose, omphalocele and polydactyly. Chromosomal analysis of cultured peripheral lymphocytes, both were found to have 47 chromosomes with 13-trisomy, which characterizes the syndrome. Brief review of literature was presented.

Keywords :Patau Syndrome.