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Original Article
Clinical Differences by Karyotype in Patients with Turner Syndrome
Mi Jung Park, Jin Sung Lee, Kir Young Kim, Duk Hi Kim, Ho Seoung Kim
Clin Exp Pediatr. 1995;38(2):143-150.   Published online February 15, 1995
Purpose : The aim of this study was to evaluate clinical differences by karyotype in Turner Syndrome. Methods : We evaluated 66 patients with Turner syndrome diagnosed at Yonsei University College of medicine from Mar.1985 to Feb.1993. We divided subproups as pure 45,X groups, mosaisism groups and structural aberration groups. Clinical features, serum estrogen, LH, FSH, concentrations, gonadotropin release after GnRH...
Case Report
A Case of Type V Hyperlipoproteinemia
Yo Ahn Rho, Jong Kwang Lee, Kee Hwan Yoo, Joo Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 1994;37(12):1752-1756.   Published online December 15, 1994
The hyperlipoproteinemias are the disturbance of lipid transport resulted from accelerated synthesis or retarded degradation of lipoproteins that transport cholesterol and trigycerides through plasma. These diseases are classified as type I, type IIa, type IIb, type III, type IV, type V, and hyper-α-triglyceride levels due to increases in both VLDL and chylomicrons and lipoprotein electrophoresis shows increases pre-β, β, and...
A Case of Rhizomelic Chondrodysplasia Punctata
Yeon Dong Lee, Moon Young Song, Hyun Hi Kim, Seunghoon Han, Wonbae Lee
Clin Exp Pediatr. 1994;37(9):1312-1316.   Published online September 15, 1994
Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by raiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in carilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal...
Two Male Siblings with Pseudohypoaldosteronism Type I
Ran Lee, Sang Yong Kim, Sung Dong Choi, Seung Yun Chung, Jin Han Kang, Byung Churl Lee
Clin Exp Pediatr. 1994;37(2):262-268.   Published online February 15, 1994
Pseudohypoaldosteronism (PHA) is rare herediary salt wasting syndrome due to peripheral resistance to aldostrone. PHA type I, subdivided into isolated renal insensitivity to aldosterone of autosomal dominant inheritance and multiple target organ defect of autosomal recessive inheritance, and PHA type II show similar clinical manifestations except hypertension which is limited to type II. PHA type I is charaterized by hyponatremia, hyperkalemia,...
Two Case of Psedohypoaldosteronism Type 1
Ji Eun Lee, Jung Wan Seo, Seung Joo Lee
Clin Exp Pediatr. 1994;37(1):122-128.   Published online January 15, 1994
Pseudohypoaldosteronism type 1 is a genetic renal tubular disease of salt wasting, presenting in young infants. Tubular unresponsiveness to elevated endogenous an exogenou aldosterone is the suggested pathogenetic mechanism. Oral sodium chloride supplementation relieve the clinical symptoms and electrolyte distrubances. We experienced 2 cases of PHA type 1 in 38-day and 450day old male infants who were presented with failure to...
Two Cases of Arnold-Chiari Malformation type II
Woo-Ki Lee, Hyui-Sung Chang, Seok-Kyu Lee, Ewng-Won Park, Kwang-Woo Kim
Clin Exp Pediatr. 1993;36(2):287-291.   Published online February 15, 1993
Arnold-Chirai malformation type II is congenital disorder which consists of downward displacement into upper cervical spinal canal of parts of the cerebellum, 4th ventricle, and medulla oblongata. We experienced two cases of Arnold-Chiari malformation with lumbar meningomyelocele, hydrocephalus. We confirmed the cases by brain C-T and report with brieft review of the lilterature.
A Case of Fukuyama Type Congenital Muscular Dystrophy
Young Eun Lee, Min Hyea Kim, Keun Lee, Eun Chul Chung, Hyea Soo Koo
Clin Exp Pediatr. 1992;35(10):1463-1468.   Published online October 15, 1992
Fukuyama type congenital muscular dystrophy is characterized by mental retardation, progressive muscle weakness and hypotonia, joint contracture and seizures in half of the reported cases. The usual CT abnormalities are dilated cerebral ventricles and Sylvian fissures and lucency of cortical white matter. The most consistent pathologic findings in the brain are polymicrogyria and pachygyria, caused by a disturbance of migration...
A Case of Distal Type of Renal Tubular Acidosis in a Neonate
Sung Sub Shim, Young Joon Kim, Jae Hong Park, Soo Yung Kim, Chan Yung Kim
Clin Exp Pediatr. 1992;35(7):1014-1018.   Published online July 15, 1992
A female infant at 38 days of age was admitted to pediatric department of Pusan National University hospital due to dehydration, weight loss, vomiting, polyuria. Physical exmination at the time of admission revealed a slightly anemic, moderately dehydrated, dwarfed female infant in no acute distress. Laboratory studies on admission revealed hypokalemic, hyperchloremic metablic acidosis with normal anion gap and persistent...
A Case of Agenesis of the Right Lung with H-type Tracheoesophageal Fistula
Yong Seok Choi, Kyung Hee Kim, Young Chul Ahn, Baik Lin Eun, Kwang Je Beck
Clin Exp Pediatr. 1992;35(6):816-821.   Published online June 15, 1992
Agenesis of the lung is a developmental defect with complete absence or profound hypoplasia of one or both lung : absence of one lung is more common. Absence of both lung is very rare and is incompatible with life. Unilateral or bilateral agenesis of the lung often associated with the skeletal, cardiovascular, gastrointestinal and genitourinary anomalies. H-type tracheoesophageal fistula in...
Original Article
Brain CT Findings According to Seizure Type in Children with Seizure Disorder
Sung-Yoon Cho, Byoung-Kee Yeo, Sa-Jun Chung, Chang-Il Ahn
Clin Exp Pediatr. 1992;35(4):470-475.   Published online April 15, 1992
Detection of the organic lesion in convulsive disorder is very important for the therapeutic p-lan and the prognostic aspects. The results of brain CT in 204 children with seizure were evalu-ated in relation to the age of onset, according to seizure type, and final diagnosis of abnormal fi ndings by CT scan. The following results were obtained. 1) Out of 204 cases,...
Erratum
A Case Ileal Duplication with Intussusception
Gyoung Wha Choi, Gyoung Sun Kang, Byung Uk Park, Wha Mo Lee, Young Seak Jeen, Tae Won Lee
Accepted January 1, 1970  
The term "duplication" should be used when describing those spherical or tubular structures found along the alimentary tract whose walls contain well-devoloped muscular layers and whose lining is a mucosa similar to that of some part nf the alimentary tract. Symptoms produced by these lesions usually vary according to their location, their size, and the type of fluid secreted by their...
Case Report
A Case of Holoprosencephaly, Alobar Type
Kyu Sun CHoi, Kang Seo Park, Young Tack Jang, Wan Seob Kim
Clin Exp Pediatr. 1992;35(3):390-394.   Published online March 15, 1992
A case of Holoprosencephaly, alobar type , was presented here and 13-month follow-up has been made. He had dyspnea, polikilothermia, frequent atypical seizures, hypernatremia & pitressinresponsive Diabetes insipidus as clinical manifeststions. Chromosome studies showed normal male karyotype (46XY). The diagnosis was confirmed by brain CT scan. A brief review of the related literature was made.
Original Article
A case of type VI Ehlers-Danlos syndrome.
Ki Soo Pai, Young Mi Chung, Ran Namgung, Chul Lee, Dong Gwan Han
Clin Exp Pediatr. 1991;34(12):1717-1723.   Published online December 31, 1991
Ehlers-Danlos syndrome is an inherited hetergenous disorder of connective tissue with characteris- tic clinical manifestations. In this article, a case of Ehlers-Danlos syndrome is presented. A nine months old female was admitted due to developmental delay. On physical examination, she had soft velvety skin and corneal opacity. Both hip joints were positive for Barlow test. There was hyper- mobility of both knee and elbow...
A case of incontinentia pigmenti.
Kwang Ik Song, Hyo Jeong Kim, Jin Bok Hwang, Chang Ho Han, Hye Li Chung, Young Dae Kwon
Clin Exp Pediatr. 1991;34(10):1446-1451.   Published online October 31, 1991
A case of incontinentia pigmenti, Bloch-Sulzberger type, without any developmental defect has been presented with the review of related literatures. The patient was a 4 day-old female infant with irregular, grouped vesicobullous lesions on the whole body, especially on the trunk and extremities since birth. No familial traits was noted. Diagnosis was made by the charateristic clinical, labaratory and histopathologic findings.
A case of atypical neurofibromatosis type 1.
Eun Joo Choi, Young Hyuk Lee, Min Hee Kim, Kyo Sun Kim
Clin Exp Pediatr. 1991;34(7):1034-1039.   Published online July 31, 1991
Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin. These macules are thought to be early sign of neurofibromatosis in childhood. We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly. We confirmed the...
Pi phenotyping in cord blood of 543 newborns.
Mee Na Lee, Jong Su Chun, Soo Kyung Choi, Yong Kyun Paik
Clin Exp Pediatr. 1991;34(7):907-911.   Published online July 31, 1991
Phenotypes and • gene frequencies in cord blood samples of 543 newborns were studied for Pi phenotypes for the purpose of estimating the risk of diseases associated with genetic deficiency of alpha-1 antitrypsin. Pi phenotypes were performed by polyacrylamide gel separator isoelectric focusing method. The allele frequencies obtained were as follows:'PiM!=0.7670, M2=0.1796 M3=0. 0506, G=0.0018,/P=0.0009. There were no alleles causing severe deficiency such as...
HLA Typing, Islet Cell Antibody and C-Peptide of Insulin Dependent Diabetes Mellitus in Children.
Hyeong Rae Cho, Sei Joong Ko, Duk Hi Kim, Hyun Chul Lee, Kap Bum Huh
Clin Exp Pediatr. 1990;33(12):1705-1712.   Published online December 31, 1990
35 childhood insulin-dependent (Typel) diabetes mellitus were typed for HLA and examined for presence of islet cell antibody and level of C-peptide. The following results were obtained: 1) HLA types were present as follows; HLA A24 (9) in 58%, DR3 in 38% and DR4 in 62%. This was slightly higher than the Korean population of 38%, 7% and 48% but there was no significant difference. 2) When...
A Case of the Membranous Type of Prepyloric Gastric Atresia.
Young Soon Shin, Byeng Gu Min, Kyeong Sook Cho, Jong Dai Jo
Clin Exp Pediatr. 1990;33(9):1276-1280.   Published online September 30, 1990
Gastric atresia is a very rare congenital anomaly that causes obstructive symptoms. In 1965 Gerber classified this anomaly. According to this classification, we recently experienced a case of the membranous type of prepyloric gastric atresia in a 30 month old female, diagnosed by clinical, radiological, and surgical findings. And we report this case with a review of literature.
2 cases of I-cell disease.
H D Lee, K H Kim, Y T Lim, W T Kim, S Y Kim, H J Jeon, H J Park, C Y Kim
Clin Exp Pediatr. 1990;33(3):360-366.   Published online March 31, 1990
Clinical pictures of 2 cases with I-cell disease patients, 8 and 11 months old female, were analyzed. Characteristic coarse facial features, gum hypertrophy, retarded growth and dysostosis multiplex were observed in both cases. Under phase contrast microscopic examination, cultured fibroblasts of skin of case I patient had their cytoplasm filled with numerous dark granules leaving only a juxtanuclear crescent free of inclusions. We report...
E-Type Prostaglandin Therapy for Neonatal Cyanotic CHD.
Ah Young Yun, Jeong Yeon Choi, Yong Soo Yoon
Clin Exp Pediatr. 1990;33(1):59-65.   Published online January 31, 1990
Between December 1987 and November 1988, Twenty infants with ductus-dependent congenital heart disease received intravenous infusion of PGE1 in the pediatric department of Seoul National University Hospital. Nineteen infants had cyanotic congtenital heart diseases and one had severe coarctation of aorta. Fifteen infants responded to PGE1 treatment and the mean Pa02 increased from 24 mmHg to 40 mmHg within one hour of infusion. Seven infants...
Spinal Muscular Atrophy Type 2 in Siblings.
Jeong Sam Jeon, Dong Hub Lee, Byung Soo Cho, Sa Jun Chung, Chang Il Ahn
Clin Exp Pediatr. 1989;32(5):718-723.   Published online May 31, 1989
We experienced two cases of spinal muscular atrophy, type 2 in 1 year 11 months old boy and 4 year 1 month old girl with the complaint of progressive muscular weakness on both lower extremities (frog leg position). Their development had been almost normal since birth and they could stand alone briefly at 12 months of age, but progressive muscular weakness had been apparent...
A Case of Chondrodysplasia Punctata of the Rhizomelic Type.
Ki Sik Min, Bo Kyung Cho, In Kyung Sung, Byung Churl Lee
Clin Exp Pediatr. 1989;32(1):87-91.   Published online January 31, 1989
Chondrodysplasia punctata is a rare familial disorder of bone, characterized by punctate calcifica- tion in the epiphyseal regions. We experienced a case of the rhizomelic type of chondrodysplasia punctata in an one day old female. She had symmetrical shortening of the proximal limbs, flexion contracture of both hip joints, cataracts and ichthyotic skin lesion. Radiologic findings showed multiple stippled calcified densities in most joints and...
A case of Holoprosencephaly.
Won Chil Lee, In Chae Kim, Kung Min Lee, Chull Zoo Jung, Wang Bok Lee
Clin Exp Pediatr. 1988;31(12):1674-1679.   Published online December 31, 1988
A case of Holoprosencephaly, alobar type in 1-day-old female infant was presented. This patient manifested median facial defects and had extracranial anomaly such as cardiac defects. Chromosome studies showed a normal female karyotype with 46 chromosomes. The diagnosis was confirmed by brain CT scan and autopsy. A brief review of literature was made.
Comparison of the Effects of Portacaval Shunt and Dietary therapy in Type I Gyocogen Storagy Diseases(GSD).
Dong Hyun Ju, Sei Won Yang, Hyung Ro Moon
Clin Exp Pediatr. 1988;31(6):762-771.   Published online June 30, 1988
Type I GSD is a metabolic disease resulted from defective glucose-6-phosphatase activities in liver, kindey and intestine. They are characterized by growth retardation, enlargement of liver and kidney, hypoglycemia, hyperuricemia, and hyperlipidemia. Various methods were suggested for the management of GSD. They are night-time nasogastric feeding of glucose solution with frequent day-time feeding, intravenous hyperalimentation, cornstarch therapy end-to-side portacaval shunt, etc. In this study, the effects...
A Case of Incontinetia Pigmenti Associated with Convulsions.
Young Ok Suh, Gyun Woo Lee, Un Ki Yoon, Ji Sub Oh, Kee Suck Suh, Sang Tae Kim
Clin Exp Pediatr. 1988;31(5):641-647.   Published online May 31, 1988
Incontinentia pigmenti is a complex hereditary syndrome in which vesicular, verrucous and pigmented cutaneous lesions are associated with developmental defects of the eye, skeletal system and central nervous system. A case of incontinentia pigmenti associated with convulsions, Block-Sulzberger type, is presented with a review of related literatures. The patient was a 40 day-old female infant with convulsions and verrucous, dark brown pigmented lesions on the trunk...
Physical Features, Karyotypes and Dermatoglyphics of 113 Children with Down Syndrome.
Byung Ho Lim, Kyoung Sim Kim, Ki Bok Kim
Clin Exp Pediatr. 1988;31(4):474-481.   Published online April 30, 1988
The physical features including dermatoglyphic patterns as well as the karyotype patterns were assesed in 113 children with Down Syndrome who had been cytogenetically confirmed in the Department during past 5 years from August 1981. The results are summarized as follows: 1) The sex ratio of the patients was 1.2 male to one female. 2) Cytogenetic examination revealed 21-trisomy in 79% and translocation in 21% of all...
A Case of Short Rib-Polydactyly Syndrome, Type 3.
Yong Woo Park, Jun Ho Kim, Yo Han Kim, Eun Ryong Kim, Soon Jai Lee, Young Jin Kim
Clin Exp Pediatr. 1987;30(12):1439-1445.   Published online December 31, 1987
A case of the Naumoff type (type 3) of short rib-polydactyly syndrome is reported. The skeletal changes included bulging forehead, flat occiput, short cranial base, extremely short horizontal ribs, abnormal vertebrae, and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondrial ossification. Extraskeletal manifestation were cleft palate, pulmonary hypoplasia, hydropelvis and hydroureter with narrowing of ureterovesical junction. Differentiation from other type of short rib-polydactyly syndrome...
Case Report
A Case of Renal Candidiasis Associated with Type I Diabetes Mellitus.
Shin Heh Kang, Jae Seung Lee, Duk Hi Kim
Clin Exp Pediatr. 1987;30(6):677-683.   Published online June 30, 1987
We have experienced a case of renal candidiasis in type I DM (IDDM). The patient was a 15-year old girl who suffered from type I DM since 3 years earlier with development of retinopathy, cataract & renal failure. Ultrasonic examination revealed multiple fungus balls in renal pelvis & urinary bladder. Candida tropicalis was cultured from fungus balls passed during urination. A brief...
Original Article
Cytogenetic Study on Chromosome Aberration in Children.
Chong Woo Bae, Chang Il Ahn, Bo Hoon Oh, Kap Soon Ju
Clin Exp Pediatr. 1987;30(6):633-639.   Published online June 30, 1987
We have conducted a retrospective study on chromosomal aberrations in children, aged under 15 years old, who had been refered to cytogenetic laboratory at Kyung Hee University Hospital from 1977 to 1986 Base upon the Karyotypes of lymphocytes and chart records, the following results were obtained; 1) Chromosomal aberrations of various types were found in 101 cases in children. 2) Age distribution revealed 65.3% were under the...
Case Report
A Case of Distal Type of Renal Acidosis.
Han young Jeong, Soon Yol Whang, Sung Won Kim, Kyung Tae Kim, Kil Hyun Kim
Clin Exp Pediatr. 1987;30(3):314-319.   Published online March 31, 1987
A 5 years old girl was admitted to Ped. Dept, of St. Benedict Hospital due to pneumonia, gait disability and knock knee. Physical examination on admission showed a picture of full blown rickets such as poor development, waddling gait, knock knee, widening of both wrists, rachitic rosary and compatible X-ray picture. IVP showed bilateral nephrocalcinosis with normal excretory function. Laboratory data showed hypematremin, hyperchloremia,...
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