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Case Report
A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 2010;53(6):718-721.   Published online June 23, 2010

Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with mental retardation. Additionally, tumors, keloids and various congenital anomalies including congenital heart defects have been reported in RTS patients. In about 50% of the patients, mutations in the CREB binding protein (CREBBP) have been found, which are understood to be associated with cell...

Two Cases of Arnold-Chiari Malformation type II
Woo-Ki Lee, Hyui-Sung Chang, Seok-Kyu Lee, Ewng-Won Park, Kwang-Woo Kim
Clin Exp Pediatr. 1993;36(2):287-291.   Published online February 15, 1993
Arnold-Chirai malformation type II is congenital disorder which consists of downward displacement into upper cervical spinal canal of parts of the cerebellum, 4th ventricle, and medulla oblongata. We experienced two cases of Arnold-Chiari malformation with lumbar meningomyelocele, hydrocephalus. We confirmed the cases by brain C-T and report with brieft review of the lilterature.
A Case of Meningomyelocele Combined with Arnold-Chiari Malformation.
Kyu Youp Kim, Hyeon Soo Park, Heung Jae Lee, Keun Soo Lee
Clin Exp Pediatr. 1981;24(12):1193-1196.   Published online December 15, 1981
We had experienced a case of meningomyelocele combined with Arnold-Chiari malformation. This neonate had her birth weight of 2,960 gm after 41 weeks of gestation. At birth, he noticed the Apgar Score of 0, so he was resuscitated immediately. On physical examination, he noticed large head and fist sized mass on back. Inspite of intensive care, he was expired at 2...
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