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A Case of Pallister-Killian Syndrome

Journal of the Korean Pediatric Society 2000;43(2):274-277.
Published online February 15, 2000.
A Case of Pallister-Killian Syndrome
Ju Suk Lee, Sung Hun Kim, Jung A Choi, Sang Yuk Nam, Su Young Kim
Department of Pediatrics,Pusan National University College of Medicine, Pusan,Korea
Pallister-Killian Syndrome 1례
이주석, 김성훈, 최정아, 남상욱, 김수영
부산대학교 의과대학 소아과학교실
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.
Key Words: Killian syndrome, Pallister-Killian syndrome

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