• Search
  • Advanced Search

Search

  • HOME
  • Search
Original Article
Prader-Willi syndrome: a single center's experience in Korea
Yea Ji Kim, Chong Kun Cheon
Clin Exp Pediatr. 2014;57(7):310-316.   Published online July 23, 2014
Purpose

Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment.

Methods

The clinical characteristics and the results...

Review Article
Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment
Dong-Kyu Jin
Clin Exp Pediatr. 2012;55(7):224-231.   Published online July 17, 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion,...

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
Dong Kyu Jin
Clin Exp Pediatr. 2011;54(2):55-63.   Published online February 28, 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused...

Original Article
Effects and adverse-effects of growth hormone therapy in children with Prader-Willi syndrome: A two year study
Su Jin Kim, Joong Bum Cho, Min Jung Kwak, Eun Kyung Kwon, Kyung Hoon Paik, Dong-Kyu Jin
Clin Exp Pediatr. 2008;51(7):742-746.   Published online July 15, 2008
Purpose : The objective of this study was to evaluate the effects and adverse side-effects of growth hormone (GH) therapy in children with Prader-Willi syndrome (PWS). Methods : Forty-one patients who had been treated with GH for more than two years (24 boys and 17 girls, mean age 7.3?.3 years during treatment initiation) were enrolled for this study. Results : After...
Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome
Keun Wook Bae, Jung Min Ko, Han-Wook Yoo
Clin Exp Pediatr. 2008;51(3):315-322.   Published online March 15, 2008
Purpose : Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this study, we compared phenotypic differences between those patients whose disease was caused by microdeletion and those caused by mUPD(15). In addition, a comparison of the efficacy of growth hormone...
Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome
Ji Eun Lee, Kwang Bin Moon, Jong Hee Hwang, Eun Kyung Kwon, Sun Hee Kim, Jong Won Kim, Dong Kyu Jin
Clin Exp Pediatr. 2002;45(9):1126-1133.   Published online September 15, 2002
Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from...
Case Report
A Case of Prader-Willi Syndrome with FUO Diagnosed at Infancy
Jun Ho Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2000;43(8):1142-1148.   Published online August 15, 2000
Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(q11-13)) was reported by Ledbetter in 1981, which was thought to be...
Original Article
The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
Young Ho Yang, Duk Hee Kim, So Chung Chung, Yong Seok Sohn, Mee Sun Kim
Clin Exp Pediatr. 2000;43(3):360-364.   Published online March 15, 2000
Purpose : To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. Methods : Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome...
Case Report
A Case of Prader-Willi Syndrome with Diabetes Mellitus
Hee Ran Choi, Eun Ha Choi, Seong Hee Jang, Young Min Ahn
Clin Exp Pediatr. 1994;37(4):565-572.   Published online April 15, 1994
Prader-Willi syndrome is characterized by infantile hypotonia, mental retardation, hyperhagia, hypogonadism and obestiy. Approximately 60% of all PLW syndrome show an interstitial deletion of chromosome 15, 37% have apparently normal chromosome, and 3.6% have a variety of other abnormalities involving chromosome 15. Diabetes mellitus has been considered a component of PLW syndrome and the incidence is about 7%. We...
A Case of Prader Willi Syndrome
K.N. Kim, Y.T. Jang, S.Y. Choi, W.S. Kim
Clin Exp Pediatr. 1992;35(5):678-683.   Published online May 15, 1992
Prader willi syndrome is characterized by infantile hypotonia, mental retardation, hyperphagia with obesity, and hypogonadism. The etiology of Prader Willi syndrome is still unknown; however, a hypothalamic defect has been postulated and recently, the deletion of long arm of chromosome 15 has been postulated and recently, the deletion of long arm of chromosome 15 has been considered as a cause...