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Case Report
Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions
Hee Moon Kim, Chul Hee Lee, Sung Koo Kim, Tae Jung Sung
Clin Exp Pediatr. 2007;50(8):789-793.   Published online August 15, 2007
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the...
Original Article
Comparison of neonatal outcomes between the spontaneous and in vitro fertilization twin pregnancies
Hee Moon Kim, Jeong Won Lee, Seon Hee Shin, Sung Koo Kim, Tae Jung Sung
Clin Exp Pediatr. 2007;50(8):740-745.   Published online August 15, 2007
Purpose : There is a dominant opinion that in vitro fertilization (IVF) leads to an increased incidence of twins, low birth weight (LBW) infants, prematurity and mortality. On the other hand, technical development of IVF and improvement of neonatal intensive care have increased the survival rate of neonates. The purpose of this study was to verify the tendency by comparing...
Effective Screening Test for Obesity in Obese Adolescents and the Correlation Among Obesity Index, Body Mass Index and Serum Lipid Profile
Tae Jung Sung, Dal Hyun Kim, Young Jin Hong, Byong Kwan Son, Kyung Ja Chang, Jun Young Park, Soon Ki Kim
Clin Exp Pediatr. 2003;46(3):217-223.   Published online March 15, 2003
Purpose : Every year, there is a remarkable increase in the prevalence of children with excess body fat. The aim of this study is to find a useful screening method in assessing adolescent, obesity and to specify the predictable risk factors that are related to adult cardiovascular disease according to BMI and obesity index. Methods : From July to November in...
Case Report
A Case of Partial DiGeorge Syndrome in Prematurity
Tae Jung Sung, Eun Young Ko, Dal Hyon Kim, Ji Eun Oh, Young Se Kwon, Dae Hyun Lim, Byong Kwan Son
Clin Exp Pediatr. 2002;45(3):383-389.   Published online March 15, 2002
We experienced a case of partial DiGeorge syndrome in a 35＋5 week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL,...
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