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Korean J Pediatr. 2010 Jun;53(6):718-721. English. Case Report.
Kim SH , Lim BC , Chae JH , Kim KJ , Hwang YS .
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr
Abstract

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 growth and proliferation. Here, we describe a typical RTS patient with Arnold-Chiari malformation. A mutation in the CREBBP gene, c.4944_4945insC, was identified by mutational analysis.

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