All issues > Volume 43(2); 2000

Case Report

J Korean Pediatr Soc. 2000;43(2):274-277. Published online February 15, 2000.

A Case of Pallister-Killian Syndrome

Ju Suk JS Lee¹, Sung Hun SH Kim¹, Jung A JA Choi¹, Sang Yuk SY Nam¹, Su Young SY Kim¹

¹Department of Pediatrics,Pusan National University College of Medicine, Pusan,Korea

Abstract

Since Pallister first described 12p tetrasomy syndrome in 1977, approximately 50 patients have been described. Chromosomal study of lymphocyte is normal in most cases, but fibroblasts usually reveal 12p tetrasomy in chromosomal study. We report on a 17-month-old male infant with Pallister-Killian syndrome. He was admitted in our hospital for investigation of developmental delay and myoclonic seizure. He was diagnosed with Killian syndrome by clinical feature and 12p isochromosome in chromosomal study. He had multiple anomalies such as frontal bossing, temporofrontal balding, hypertelorism, simian crease, and accessory nipple. He died at home at 25 months old.

Keywords :Killian syndrome, Pallister-Killian syndrome