• Title/Summary/Keyword: Short Stature

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TREACHER COLLINS SYNDROME : A CASE REPORT (Treacher Collins 증후군 환아의 증례보고)

  • Park, Ji-Hyun;Kim, Seung-Hae;Song, Je-Seon;Kim, Seong-Oh;Lee, Jae-Ho
    • Journal of the korean academy of Pediatric Dentistry
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    • v.37 no.3
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    • pp.374-380
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    • 2010
  • Treacher Collins syndrome(TCS) is a rare, incurable condition occurring in approximately 1 of 25,000 to 50,000 births. It may occur as a spontaneous mutation out of genetically normal parents or it may be manifested as an autosomal dominant pattern. TCS is characterized by facial deformities such as, underdevelopment of the maxilla, mandible and zygoma, malocclusion, bilateral deformities of auricles, antimongoloid slant of the palpebral fissures. The syndrome is often associated with cleft lip and palate, ear malformations and hearing loss, short stature, and anomalies of the heart and skeleton. Respiratory difficulty associated with air way obstruction may also be observed, and there is considerable difficulty in airway management during general anesthesia. It is necessary that dentists provide safe dental treatments and guidelines to TCS patients by providing adequate understanding about the characteristics of the syndrome and proper ways of managements. The purpose of this study is to report the dental and medical characteristics of the patient who visited the Department of Pediatric Dentistry, Yonsei University for multiple dental caries treatment and to review the literatures of TCS.

First Successful Dynamic Cardiomyoplasty in Korea (심근 성형술 1례 보고)

  • ;;;;;;;;Igor Dubrovski, Ph.D.
    • Journal of Chest Surgery
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    • v.31 no.4
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    • pp.393-397
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    • 1998
  • A 25-year-old man with viral cardiomyopathy and chronic active hepatitis successfully underwent dynamic cardiomyoplasty for the first time in Korea on July 30, 1996. The patient had been intermittently dyspneic for 5 years and was admitted to our center twice because of heart failure. For the past 2 years, he was NYHA functional class III status with a left ventricular ejection fraction(LVEF) of around 30%. The patient was born with scoliosis and showed a short stature. The liver function showed elevated liver enzymes, and hepatitis B antigen was positive. The liver biopsy revealed chronic active hepatitis. The preoperative echocardiogram showed decreased left ventricular function with grade II mitral and grade II tricuspid regurgitation with dilated left and right atrium. Recently his symptoms worsened and we decided to perform a dynamic cardiomyoplasty. The left latissmus dorsi muscle(LDM) was mobilized and tested with lead placement on his right lateral decubitus position. The patient was positioned into supine and, after median sternotomy, the heart was wrapped with the mobilized muscle. The Russian made cardiomyostimulator(EKS-445) and leads (Myocardial PEMB for heart and PEMP-1 for LDM) were used. The total operation time was 8 hours and there were no perioperative episodes. Postoperatively the LDM had been trained for a 10 week period and currently the stimulation ratio is maintained at 1:4. The postoperative LVEF did not increase with the value of 30-35%. However, the patient feels better postoperatively with slightly increased activity.

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The role of p21/CIP1/WAF1 (p21) in the negative regulation of the growth hormone/growth hormone receptor and epidermal growth factor/epidermal growth factor receptor pathways, in growth hormone transduction defect

  • Kostopoulou, Eirini;Gil, Andrea Paola Rojas;Spiliotis, Bessie E.
    • Annals of Pediatric Endocrinology and Metabolism
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    • v.23 no.4
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    • pp.204-209
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    • 2018
  • Purpose: Growth hormone transduction defect (GHTD) is characterized by severe short stature, impaired STAT3 (signal transducer and activator of transcription-3) phosphorylation and overexpression of the cytokine inducible SH2 containing protein (CIS) and p21/CIP1/WAF1. To investigate the role of p21/CIP1/WAF1 in the negative regulation of the growth hormone (GH)/GH receptor and Epidermal Growth Factor (EGF)/EGF Receptor pathways in GHTD. Methods: Fibroblast cultures were developed from gingival biopsies of 1 GHTD patient and 1 control. The protein expression and the cellular localization of p21/CIP1/WAF1 was studied by Western immunoblotting and immunofluorescence, respectively: at the basal state and after induction with $200-{\mu}g/L$ human GH (hGH) (GH200), either with or without siRNA CIS (siCIS); at the basal state and after inductions with $200-{\mu}g/L$ hGH (GH200), $1,000-{\mu}g/L$ hGH (GH1000) or 50-ng/mL EGF. Results: After GH200/siCIS, the protein expression and nuclear localization of p21 were reduced in the patient. After successful induction of GH signaling (control, GH200; patient, GH1000), the protein expression and nuclear localization of p21 were reduced. After induction with EGF, p21 translocated to the cytoplasm in the control, whereas in the GHTD patient it remained located in the nucleus. Conclusion: In the GHTD fibroblasts, when CIS is reduced, either after siCIS or after a higher dose of hGH (GH1000), p21's antiproliferative effect (nuclear localization) is also reduced and GH signaling is activated. There also appears to be a positive relationship between the 2 inhibitors of GH signaling, CIS and p21. Finally, in GHTD, p21 seems to participate in the regulation of both the GH and EGF/EGFR pathways, depending upon its cellular location.

Agronomic Characteristics of A Promising Line Adaptable to Extremely Early Cultivation (벼 극조기 재배 적응 유망계통의 농업적 특성)

  • Lee, Jong-Hee;Oh, Seong-Hwan;Kim, Sang-Yeol;Cho, Jun-Hyeon;Lee, Ji-Yoon;Yeo, Un-Sang;Song, You-Chun;Choi, Kyoung-Jin;Park, Tae-Seon;Kang, Hang-Won;Lee, Hag-Dong
    • Korean Journal of Breeding Science
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    • v.42 no.4
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    • pp.407-412
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    • 2010
  • Recently, peoples are greatly concerned with global temperature change because global warming can be a potential serious effect on agriculture production such as yield reduction and poor grain quality. On the other hand, it can bring some beneficial effects through twice cultivation of rice in temperate region. In order to overcome this situation, we developed extremely early-maturing rice 'Milyang255' which heading date was similar with 'Jinbuolbyeo'. Based on agronomic characteristics of 'Milyang255', it has very short stature as 65 cm of culm length and slightly lower spikelets number per panicle compared with that of 'Jinbuolbyeo'. However, the grain appearance, palatability and other items were better than those of 'Jinbuolbyeo' in panel test of cooked rice. The milled rice yield of 'Milyang255' is 3.94 MT/ha at the early transplanting. Especially, its grain filling rate was higher and faster than Jinbuolbyeo and the head rice ratio in milled rice was also higher. Thus, 'Milyang255' can efficiently reduce the growth duration of rice cultivation and also be useful material for research on twice cultivation of rice in Korea.

A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.103-108
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    • 2017
  • Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

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Studies on Inheritance and Ecological Variation of the Culm Length and Its Related Characters in Short-Statured Rice Varieties (수도단간품종의 간장 및 관련형질의 유전과 생태적 변이에 관한 연구)

  • Sung-Ho Bea
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.13
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    • pp.1-40
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    • 1973
  • These studies were aimed at clarification of genetic and ecological variation in culm length, panicle length and plant height of the $\textrm{F}_2$ plants in some selected crosses made between semi-dwarf rice varieties and tall Japonica ones. One Indica semi-dwarf, Taichung Native 1, one Indica $\times$ Japonica hybrid, IE51 and one Japonica semi-dwarf, Tankanbaekmang were used as short-gene donors while two of medium maturity varieties, Jinheung and Kwanok and one late veriety, Palkweng were used as the corresponding counterpart of respective dwarf varieties in a series of crosses. Five different crosses, Kwanok $\times$ Tankanbaekmang, Palkweng $\times$ Tankanbaekmang, Jinheung $\times$ T(N)1, Kwanok $\times$ T(N)1 and Kwanok $\times$ IE51, were made among the above six varieties. The $\textrm{F}_2$ plants of these crosses together with the concerned parental varieties were grown under several different conditions including three levels of each nitrogen and planting space, three planting seasons and three locations in 1968, to investigate variation in length of culm and panicle, and plant height. On the other hand, the F$_3$ progenies which were derived from the shortest 10 percent of the plants of three $\textrm{F}_2$ populations, Kwanok $\times$ T(N)1, Jinheung $\times$ T(N) 1 and Kwanok $\times$ IE51 grown in the previous year, were compared each other on the basis of selection efficiency in culm length. The experimental results could be summarized as follows; 1. Genetic behavior A. It was revealed that Tankanbaekmang, one of Japonica dwarf has a simple recessive gene responsible for short culm expression, showing a typical segregation ratio of three tall to one short culm plants in $\textrm{F}_2$ generation of the crosses either with Kwanok or Palkweng. B. In the both combinations, segregation pattern of the panicle length was exactly same as that of culm length. It seems that the same gene controls both culm length and panicle length. C. No difference between segregation of culm length and plant height in the above crosses was observed. D. T(N)1, one of Indica semi-dwarf did not show such a simple genetic behavior as detected from the crosses with Tankanbaekmang in segregation of culm length but formed a continuous and normal distribution curve. Therefore, some nonallelic genic actions might be involved in expression of culm length of the counterpart varieties of T(N)1. In particular, a transgressive segregation appeared toward the direction of longer culm length in case of Jinheung $\times$ T(N)1. The genetic behavior of panicle length and plant height generally coincided with that of culm length in all the cases. E. IE51 demonstrated exactly the same genetic behavior as that of T(N)1 when this variety was crossed with Kwanok. It was clearly clarified that the simple recessive gene controlling dwarfism from T(N)1 was well incorporated into this variety. 2. Ecological variation A. In general, there was a decreasing tendency in culm length and plant height of rice plant as seeding delayed while it was not so noticeable in panicle length. The decreasing magnitude varied from variety to variety and from cross to cross. Genetic behavior of the culm length and related characters of these materials was not disturbed by the variation of seeding season, nitrogen level, planting space and experimental location. E. The elongation mode of the upper three internodes was very similar to the segregation mode of culm length, panicle length and plant height in $\textrm{F}_2$ populations of . all the crosses investigated in this study. Accordingly, this result confirmed that the roles of the upper three internodes are very important in manifesting plant stature in rice. C. The effect of nitrogen on culm length and the related other two characters seemed to be meager. However, it was true to show an increasing tendency of those characters as nitrogen level got increased from 4 kg to 12kg per l0a, with different magnitude depending upon variety or cross. D. Also, the effect of planting space on culm length, panicle length and plant height was relatively small in all the cases. Those characters varied again depending upon variety or cross. However, a general increasing tendency was detected in manifestation of those traits under denser planting space condition. E. All the parental varieties produced shorter culm, panicle and plant height when they were grown at the lower latitude locations. It might be attributed to the fact that their reproductive growth accelerated with increased temperature prevailing at the lower latitude locations such as Iri and Mi1yang. On the countrary, $\textrm{F}_2$ population reacted differently to the different locations from the parental varieties. All the $\textrm{F}_2$ plants produced the longest culm, panicle and plant at Milyang. 3. Selection efficiency A. The heritability of culm length in Kwanok $\times$ T(N)1, Kwanok $\times$ IE51 and Jinheung$\times$T(N)1 was 92 percent, 74 percent and 55 percent, respectively. B. The actual genetic advance for culm length obtained from the progeny lines of the selected plants(10 precent) from the $\textrm{F}_2$ generation, was comparable to the expected advance calculated from the original $\textrm{F}_2$ populations. As compared with the $\textrm{F}_2$ population, the $\textrm{F}_3$ plants of Kwanok $\times$ T(N)l shortened on the average by 20.8cm, those of Kwanok $\times$ IE51 did 8.7cm and those of Jinheung$\times$T(N)1 20.0cm, respectively. C. Panicle length of the populations was differently affected from one cross to another by the selection based upon culm length in $\textrm{F}_2$ Kwanok $\times$ T(N)1 did not show any noticeable shortening of its culm length due to the selection pressure. On the other hand, both Kwanok $\times$ IE51 and Jinheung $\times$ T(N)1 showed a considerable shortening of their panicles in case of selection for culm length. Based upon the above results, it could be concluded that the ecological variation in culm length, panicle length and plant height was relatively small and fallen within the range of genetic variation. Considering from the fact that the simple recessive gene governing short height of Tankanbaekmang always accompanied with some undesirable characters such as short panicle and extremely small grain, the short gene of T(N)1 seemed to be more useful as dwarf gene source since it did not carry short gene together with such undesirable traits.

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Clinical Study of Hypophosphatemic Rickets (저인산혈성 구루병에 대한 임상적 고찰)

  • Lee Chang-Jin;Cho Hee-Yeon;Kang Ju- Hyung;Shin Choong-Ho;Ha Il-Soo;Cheong Hae-Il;Yang Sei-Won;Choe Yong
    • Childhood Kidney Diseases
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    • v.8 no.2
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    • pp.195-204
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    • 2004
  • Purpose: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin $D_3$, rachitic bone deformities and impaired growth. The purpose of this study is to provide clinical profiles of patients with hypophosphatemic rickets in our hospital. Methods: Between July 1983 and February 2004, 56 patients were diagnosed as having hypophosphatemic rickets. The medical records of these patients were reviewed retrospectively. Clinical manifestations, family histories, laboratory data, treatment outcomes were described. Results: Fifty six patients were enrolled in this study. The average age at symptom onset and diagnosis were 20 months and 5 years respectively. Fourteen patients had family histories. The main clinical manifestations were bow legs and short stature. There was a significant negative correlation between the ages and the height z-scores at the time of diagnosis(r=-0.47, P=0.005). Initial laboratory data showed normocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, decreased tubular reabsorption of phosphate and a normal range of 1,25-dihydroxyvitamin $D_3$ Radiographic examinations of bone revealed fraying, widening and cupping of the metaphyseal ends. Treatment consisted of Joulie solution and vitamin D metabolites, and resulted in improved biochemical and radiographic findings. However, height z-scores remained essentially unchanged(P=0.224). Complications of treatment were frequently observed, including hyperparathyroidism, nephrocalcinosis, and hypercalciuria. Sixteen patients had corrective osteotomy and 4 of them underwent leg lengthening together. Conclusion: There was a gap of several years between the onset of symptoms and the diagnosis. Early treatment seems to be essential to growth. For the earlier treatment, the offsprings of affected parents should be followed up closely.

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Factors Related to Poor School Performance of Elementary School Children (국민학교아동의 학습부진에 관련된 요인)

  • Park, Jung-Han;Kim, Gui-Yeon;Her, Kyu-Sook;Lee, Ju-Young;Kim, Doo-Hie
    • Journal of Preventive Medicine and Public Health
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    • v.26 no.4 s.44
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    • pp.628-649
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    • 1993
  • This study was conducted to investigate the factors related to the poor school performance of the elementary school children. Two schools in Taegu, one in the affluent area and the other in the poor area, were selected and a total of 175 children whose school performance was within low 10 percentile (poor performers) and 97 children whose school performance were within high 5 percentile (good performers) in each class of 2nd, 4th and 6th grades were tested for the physical health, behavioral problem and family background. Each child had gone through a battery of tests including visual and hearing acuity, anthropometry (body weight, height, head circumference), intelligence (Kodae Stanford-Binet test), test anxiety (TAI-K), neurologic examination by a developmental pediatrician and heavy metal content (Pb, Cd, Zn) in hair by atomic absorption spectrophotometry. A questionnaire was administered to the mothers for prenatal and prenatal courses of the child, family environment, child's developmental history, and child's behavioral and learning problems. Another questionnaire was administered to the teachers of the children for the child's family background, arithmatic & language abilities and behavioral problem. The poor school performance had a significant correlation with male gender, high birth order, broken home, low educational and occupational levels of parents, visual problem, high test anxiety score, attention deficit hyperactivity disorder (ADHD), poor physical growth (weight, height, head circumference) and low I.Q. score. The factors that had a significant correlation with the poor school performance in multiple logistic regression analysis were child's birth order (odds ratio=2.06), male gender(odds ratio=5.91), broken home(odds ratio=9.29), test anxiety score(odds ratio=1.07), ADHD (odds ratio=9.67), I.Q. score (odds ratio=0.85) and height less than Korean standard mean-1S.D.(odds ratio=11.12). The heavy metal contents in hair did not show any significant correlation with poor school performance. However the lead and cadmium contents were high in males than in females. The lead content was negatively correlated with child's grade(P<0.05) and zinc was positively correlated with grade (P<0.05). among the factors that showed a significant correlation with the poor school performance, high birth order, short stature and ADHD may be modified by a good family planning, good feeding practice for infant and child, and early detection and treatment of ADHD. Also, teacher and parents should restrain themselves from inducing excessive test anxiety by forcing the child to study and over-expecting beyond the child's intellectual capability.

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Catch up growth in children born small for gestational age by corrected growth curve (부당 경량아로 출생한 소아들에서 교정성장곡선을 이용한 따라잡기 성장에 대한 연구)

  • Jung, Myung Ki;Song, Ji Eun;Yang, Seung;Hwang, Il Tae;Lee, Hae Ran
    • Clinical and Experimental Pediatrics
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    • v.52 no.9
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    • pp.984-990
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    • 2009
  • Purpose : Being small for gestational age (SGA) is a risk factor of short stature in children. Genetic background such as mid-parental height (MPH) is known to influence growth of children born SGA. We studied the relationship between growth of children born SGA and MPH and studied the effects of insulin-like growth factor (IGF-I) and insulin-like growth factor binding protein 3 (IGFBP-3) on postnatal growth in children born SGA according to MPH. Methods : Forty-nine neonates born SGA were included in this study. We defined corrected height standard deviation score (cHtSDS) by modified height SDS (HtSDS) based on their MPH. We categorized subjects into group 1 consisting of children with cHtSDS ${\geq}0$ (n=35) and group 2 consisting of children with cHtSDS <0 (n=14), and compared IGF-I and IGFBP-3 between the two groups. Results : The HtSDSs and cHtSDSs in groups 1 and 2 were $0.06{\pm}1.05$ vs. $-0.95{\pm}0.85$ (P=0.000) and $0.78{\pm}0.93$ vs. $-0.46{\pm}0.67$ (P=0.000), respectively. IGF-I SDS was higher in group 1 than in group 2 ($2.82{\pm}3.69$ vs. $0.23{\pm}2.42$, P=0.012). Total cHtSDS ($0.42{\pm}1.03$) was significantly higher than HtSDS ($-0.22{\pm}1.10$) (P=0.000). Conclusion : Our results show that cHtSDS differs significantly from HtSDS. Growth assessment by standardized growth curve does not uniformly show effects of genetic factors. A more accurate assessment of growth uses a personalized corrected growth curve that considers the genetic factor measured by MPH.

Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome (프래더 윌리 증후군의 유전학적 발병 기전에 따른 표현형 및 성장 호르몬 치료 효과에 관한 연구)

  • Bae, Keun Wook;Ko, Jung Min;Yoo, Han Wook
    • Clinical and Experimental Pediatrics
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    • v.51 no.3
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    • pp.315-322
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    • 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 (GH) therapy between these two PWS genotypes was analyzed. Methods : Fifty-three patients were diagnosed as having PWS based on molecular and cytogenetic analyses and clinical features. Data that included maternal age, birth weight, a feeding problem in the neonatal period, cryptorchidism, developmental delay or mental retardation, short stature, hypopigmentation, changes in height, weight, and body mass indexes (BMI) before and after GH treatment were obtained by a retrospective review of medical records. The data from the patients with microdeletion were compared with those from the patients with mUPD(15). Results : Of the 53 patients with genetically confirmed PWS, 39 cases had microdeletion and 14 mUPD(15). Maternal ages were significantly higher in the mUPD(15) group, and hypopigmentation and a feeding problem in the neonatal period were more frequent in the microdeletion group. Growth hormone was administered to 20 patients [14 with microdeletion, 6 with mUPD(15)]. There were no differences between the two groups in height velocity, weight and height SDS, and BMI after GH therapy. Conclusion : Phenotype and genotype correlations were observed in Korean PWS patients, such as more advanced maternal ages in the mUPD(15) group and more feeding problems and hypopigmentations in the microdeletion group. Further long-term prospective studies are needed to correlate other aspects of the phenotypes.