• Childhood Kidney Diseases
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• v.11 no.1
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• pp.100-105
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• 2007

Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwafism, mental retardation, loss of facial subcutaneous adipose tissue, microcephaly and photosensitive dermatitis. It is associated with renal abnormalities characterized by hyalinization of glomeruli, atrophy of tubules and interstitial fibrosis. To our knowledge, this is the first report of a case of Cockayne syndrome with FSGS in Korea. A 7-year old boy was admitted for evaluation of hypertension and proteinuria, which were detected 2 month ago. He was followed for short stature(<3 percentile), mental retardation(IQ 55), strabismus and dental caries since 3 years ago. He also showed microcephaly, a bird-like face and relatively large hands and feet. Laboratory findings showed decreased creatinine clearance($C_{Cr}$ 76.1 mL/min/$1.73m^2$) and proteinuria(1,548 mg/day). Renal biopsy demonstrated focal segmental glomerulosclerosis of the hilar type with large hyaline deposits, moderate tubular atrophy and interstitial fibrosis. His cardinal features, mental retardation, and renal biopsy findings were consistent with Cockayne syndrome. We report here a very rare case of Cockayne syndrome with FSGS presenting with proteinuria and hypertension.

• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.1
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• pp.124-129
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• 2010

Seckel syndrome is an autosomal recessive disorder characterized by intrauterine growth retardation and post-natally by dwarfism, severe microcephaly, bird-headed profile with receding chin, prominent nose, joint defects, clubfoot, sparse hair, malformation of genitourinary tract and rectum, mental retardation and hematological disorders. There is also a reduction in the number of blood cells. Dental anomalies of Seckel syndrome are crowded teeth with malocclusion, enamel hypoplasia, absence of some teeth and taurodontism. This report described the oral and maxillofacial manifestations of children associated with Seckel syndrome. Children with Seckel syndrome have several dental and skeletal irregularities. The purpose of this study was to report the dental and medical characteristics of the patient and review the literatures of Seckel syndrome.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1179-1186
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• 2005

Purpose : A universal standard of the birth weight for gestational age cannot be made since girth weight distribution varies with race and other sociodemographic factors. This report aims to establish the birth weight distribution curve by gestational age, specific for Korean live births. Methods : We used the national birth certificate data of all live births in Korea from January 2001 to December 2003; for live births with gestational ages 24 weeks to 44 weeks(n=1,509,763), we obtained mean birth weigh, standard deviation and 10th, 25th, 50th, 75th and 90th percentile values for each gestational age group by one week increment. Then, we investigated the birth weight distribution of each gestational age group by the normal Gaussian model. To establish final standard values of Korean birth weight distribution by gestational age, we used the finite mixture model to eliminate erroneous birth slights for respective gestational ages. Results : For gestational ages 28 weeks 32 weeks, birth weight distribution showed a biologically implausible skewed tail or bimodal distribution. Following correction of the erroneous distribution by using the finite mixture model, the constructed curve of birth weight distribution was compared to those of other studies. The Korean birth weight percentile values were generally lower than those for Norwegians and North Americans, particularly after 37 weeks of gestation. The Korean curve was similar to that of Lubchenco both 50th and 90th percentiles, but generally the Korean curve had higher 10th percentile values. Conclusion : This birth weight distribution curve by gestational age is based on the most recent and the national population data compared to previous studies in Korea. We hope that for Korean infants, this curve will help clinicians in defining and managing the large for gestational age infants and also for infants with intrauterine growth retardation.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.196-199
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• 2007

Coffin-Lowry syndrome (CLS) is a rare X-linked hereditary disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering fingers, and skeletal deformity. A 12-month-old boy was referred to our pediatric clinic for his developmental delay and seizure with fever. The boy exhibited a coarse facial appearance characterized by prominent, high-arched eyebrow, broad nose, downward palpebral fissure, high arched palate, hypodontia. The boy also showed finger tapering and puffy hand. Hypotonia, hyperextensible fingers and hypermobility of the joint were seen. Based on these findings, he was diagnosed as having Coffin-Lowry syndrome. We report a case of Coffin-Lowry syndrome with reference.

• Clinical and Experimental Pediatrics
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• v.48 no.1
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• pp.108-111
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• 2005

Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to-end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.

• Journal of Chest Surgery
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• v.31 no.9
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• pp.861-866
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• 1998

Background: Pulmonary atresia (PA) with ventricular septal defect has various morphology of pulmonary arteries and pulmonary blood flow sources, so pulmonary arterial hypoplasia and arborization abnormality make this anomaly difficult to manage surgically. In cases associated with juxtaductal stenosis, we evaluated the change of the pulmonary arterial and juxtaductal stenotic site after shunt operations, and would like to find useful information in surgical planning and methodology of these patients. Material and Method: Among 59 cases diagnosed as PA with ventricular septal defect associated with juxtaductal stenosis, 29 cases who had cardiac catheterization before and after shunt operation were selected from July, 1991 to July, 1996. In 10 cases of right shunt operation(Group I) and 19 cases of left shunt operation (Group II), the diameters of the descending aorta, both pulmonary arteries, and the juxtaductal stenosis site were measured before and after the shunt operation. Result: In both Group I and II, the pre- and postoperative ratio of diameters of the ipsilateral pulmonary artery to the descending aorta was from 0.78${\pm}$0.31 units to 1.01${\pm}$0.26 units and from 0.67${\pm}$0.18 units to 0.84${\pm}$0.27 units respectively, showing a signigicant increase. The contralateral pulmonary artery index was increased from 0.92${\pm}$0.28 units to 1.05${\pm}$0.15 units and from 0.94${\pm}$0.27 units to 1.08${\pm}$0.37 units respectively, but could not be confirmed statistically. In both groups, the change of juxtaductal stenosis showed an aggravating tendency but of no statistical significance from 0.43${\pm}$0.27 units to 0.39${\pm}$0.25 units and from 0.32${\pm}$0.10 units to 0.30${\pm}$0.16 units respectively, and we experienced 2 total obstruction in Group II. Because the increased pulmonary blood flow by shunt operation has a favorable effect to the pulmonary arterial growth, the shunt operation is a recommended treatment in patients with hypoplastic pulmonary arteries. But in PA with ventricular septal defects, the change of juxtaductal stenosis is very important. In conclusion, the growth of ipsilateral (shunt site) pulmonary artery was promoted by shunt operation, but there is a tendency for the juxtaductal stenosis to be aggravated. And we experienced 2 total obstruction in Group II. Conclusion: Thus, in cases operated with shunt method, much careful postoperative follow up study including angiographic evaluation is needed, and after the shunt operation on the side of pulmonary artery associated with juxtaductal stenosis, early precise planning for total correction is recommended.

• Journal of Chest Surgery
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• v.35 no.1
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• pp.52-55
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• 2002

We report one case of an 18-day-old female patient, weighing 3.4 kg, with severe cyanosis. The diagnosis was made with only transthoracic echocardiography, which revealed cor triatriatum with an atretic small opening of fibromuscular membrane, obstructive infracardiac total anomalous pulmonary venous drainage(TAPVD), severely restrictive interatrial communication, and scanty mitral inflow and aortic forward flow. The preoperative decision-making for biventricular repair was not easy due to collapsed left heart system caused by remarkably reduced blood flow An emergent operation was performed due to severe cyanosis. All left heart structures were somewhat hypoplastic but thought to be adequate for systemic circulation. Biventricular repair was done without specific intraoperative problems. The postoperative course was uneventful. The patient has been doing well with no evidence of pulmonary vein stenosis or mitral regurgitation for 4 months after operation.

• Journal of the korean academy of Pediatric Dentistry
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• v.41 no.1
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• pp.40-46
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• 2014

Treacher Collins syndrome (TCS) is autosomal dominant disorder that occurs approximately 1 in 25,000 to 50,000 live births. The main signs of syndrome are hypoplasia of facial bone and microtia. One in third of them is associated with cleft palate and often shows dental hypoplasia. TCS patients need several number of surgery with general anesthesia throughout their life time for recovery of function and esthetic. Endotracheal intubation of TCS patient is very difficult due to microstomia, retrognathia, choanal stenosis, and decreased oropharyngeal airway. Therefore, general anesthesia of adolescent TCS patient with immature incisor roots has high risk of causing dental trauma. This case is regarding TCS patient who was referred to the Department of Pediatric Dentistry, Yonsei University for avulsed upper left central incisor during endotracheal intubation. The purpose of this report is to emphasize the usefulness of mouth guard to prevent dental trauma when endotracheal intubation is needed for TCS patient.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.79-83
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• 2019

Treacher Collins syndrome(TCS) is an autosomal craniofacial development disorder which results from mutations in the gene TCOF1. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss. Oral manifestations are characterized by cleft palate, shortened soft palate, malocclusion, anterior open bite and enamel hypoplasia. The purpose of this presentation is to describe the interesting aspects of dental treatment of a patient with TCS. A 6-year-old boy with TCS visited Seoul National University Dental Hospital for dental caries. Multiple caries was observed from clinical and radiographic examination. Because of multiple caries and behavior management ploblem, dental treatment under general anesthesia was planned. Treatment of posterior teeth was performed and some primary teeth were extracted. General anesthesia was induced and maintained with sevoflurane, nitrous oxide and oxygen. Under general anesthesia, successful dental procedure was done. Considering behavior management problem and medical condition of patient with TCS, general anesthesia can be useful.

• Clinical and Experimental Reproductive Medicine
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• v.10 no.2
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• pp.25-37
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• 1983

As the cytogenetic developed, cytogenetic study has also developed progressively. This study is a systematical cytogenetic and clinico-hormonal analysis of 20 cases Wp.ere gonadal dysgenesis was diagnosed and deferred to the Dept. of obstetrics and Gynecology, Yonsei University, Medical School from Jan. 1974 to Aug. 1983. Twenty patients with the diagnosis of gonada dysgenesis have been assesed as to possible correlations between clinical, homonal and cytogenic findings. The desults were as follows; l. Gonadal dysgenesis were found in 20 cases, consisting of 15 cases (75%) of turnurs syndrome, 4 case of pure gonadal dysgenesis (20%), 46. XX and 1 case of mixed gonadal dysgenesis, 45,XO/46,XY. 2. Patients with XO karyotype, turner's ryndorme, have a resonably constant clinical picture of sexual infantilism with streak gonads, short status and webbed neck. 3. 17 cases were found primary amenorhea and two cases were noted with 2 ndary amenorrhea. one case has been presented with menstruation. 4. The rudimentary streak gonads were found in 7 cases of 8 cases and one case has a rudimentary streak gonad on one side and a testis on the contralateral side. 5. The study showed that potients with gonadal dysgenesis had an average of about 4-8 times higher basal FSH and about 3-7 times higher basal LH than that of the early follicular phase of normal menstrual cycle. 6. Two cases of three gonadal dysgenesis patieats, who performed LH-RH challage test, showed that the serum FSH levels reached the maximal level at 30 min after injection of CHRH and the serum LH level reached the maximal level at 60 min ofter injection of LHRH one case showed no significant response to LH-RH injection. Thus, bu studying simultoneously the clinical, cytogenic, hormonal aspects and visualization of gonads, we have gained some practical insight into the requirements for proper disgnosis and treatment.