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Case Report
A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online December 31, 2010

Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the...

Original Article
Asthma predictive index in children with recurrent wheezing
Joo Young Jang, Hyo Bin Kim, So Yeon Lee, Ja Hyung Kim, Bong Seong Ki, Hee Jung Seo, Soo-Jong Hong
Clin Exp Pediatr. 2006;49(3):298-304.   Published online March 15, 2006
Purpose : We compared the asthma predictive index(API) and the modified asthma predictive index (mAPI) of the Tuscon Children's Respiratory Study Group in Korean children with recurrent wheezing. We investigated the atopic profiles and presence of allergen sensitization of each risk group, and ascertained the significant clinical risk factors. Methods : Two hundred and sixty two children, who visited for recurrent...
Airway Expandible Metallic Stent Implantation in Children with Tracheal or Bronchial Stenosis
Ju Young Jang, Hyo-Bin Kim, So Yeon Lee, Ja Hyung Kim, Seong Jong Park, Ji Hoon Shin, Soo-Jong Hong
Clin Exp Pediatr. 2005;48(5):512-517.   Published online May 15, 2005
Purpose : In adults, endoscopic tracheobronchial balloon dilatation and stenting have become valuable methods to establish and maintain an adequate airway lumen when tracheomalacia or neoplastic growth compromise the airways. But in children, only a few cases were reported due to technical problems. We report six children who were treated with stent implantation and describe the use and safety of...
Case Report
A Case of Multiple Juvenile Xanthogranuloma Involving Skin and Systemic Organs
So Yeon Lee, Yong Seok Jang, Min Sun Kim, Yun Jeong Yang, Myoung Ja Jung, Pyoung Han Hwang
Clin Exp Pediatr. 2004;47(2):227-230.   Published online February 15, 2004
Juvenile xanthogranuloma(JXG) is one of the most common non-Langerhans cell histiocytosis, benign histiocytic proliferative disorder. It typically presents as a solitary, benign, rapidly growing cutaneous tumor that may regress spontaneously. Most cutaneous lesions of JXG occur in the head and neck region of infants and young children. This disease is usually present with cutaneous lesion only; visceral involvement including the...
Original Article
The Utilities of Lung Biopsy in Pediatric Lung Disease
Jae Hee Lee, So Yeon Lee, Ja Hyung Kim, Bong Sung Kim, Soo-Jong Hong
Clin Exp Pediatr. 2003;46(12):1230-1234.   Published online December 15, 2003
Purpose : The aim of this study is to evaluate the value of lung biopsies for the management of children with lung disease. Methods : We retrospectively reviewed 19 lung biopsies done at Asan Medical Center, Seoul between 1993 and 2001. Data gathered included demographic information, underlying conditions, diagnosis before biopsy, final diagnosis, change in therapy, morbidity and mortality. Results : Nineteen...
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