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Case Report
Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome
Hyung Soon Choi, Jeong Jin Yu, Young-Hwue Kim, Jae-Kon Ko, In-Sook Park
Clin Exp Pediatr. 2012;55(6):212-214.   Published online June 21, 2012

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our...

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...

Original Article
A case of Rubinstein-Taybi syndrome.
Cheol Hee Hwang, Dong Gue Lee, Myung Sug Nam, Moon Kee Cho
Clin Exp Pediatr. 1991;34(8):1146-1150.   Published online August 31, 1991
Rubinstein-taybi syndrome is characterized by typical skeletal abnormalities such as broad thumb and large first toe, mental and motor retardation, and facial abnormalities. In addition, defects of the cardiovascular system and the urinary tract may be present. We have experienced a case of Rubinstein-Taybi syndrome which a five-year-old boy had broad thumb and large first toe, mental and motor retardation, and facial abnormaiities (palpebral...
Case Report
A Case of Rubinstein-Taybi Syndrome.
Won Hee Baik, Mee Ran Roh, Young Chang Kim, Hyung Jin Choi, Sang Jhoo Lee
Clin Exp Pediatr. 1984;27(12):1244-1249.   Published online December 31, 1984
Rubinstein-Taybi syndrome is a new complex of physical findings consisting primarily of broad thumbs, broad great toes and facial abnormalities, associated with mental retardation. We have experienced a case of Rubinstein-Taybi syndrome in a 5month-old male infant who had two recurrent pneumonia a竹acks. The diagnosis was easily established by clinical features and radiologic examinations. So a brief review of the pertinent literatures is given.
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