• 한국임상수의학회지
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• 제34권4호
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• pp.279-282
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• 2017

A 9-month-old, female, mixed-breed dog was presented with dyspnea, exercise intolerance and a left apical heart murmur. Echocardiography revealed mitral systolic regurgitant flow by morphological abnormalities of the mitral apparatus including dilated annulus, excessively asymmetric mitral leaflets, short and stout chordae tendinae, and atrophic papillary muscles. The dog was diagnosed with congenital mitral dysplasia based on the echocardiographic features. Two months later, the dog died and the echocardiographic findings were confirmed by necropsy. This case report describes the echocardiographic features of mitral dysplasia with papillary muscle atrophy, and compares the gross necropsy findings in a dog.

• Clinical and Experimental Pediatrics
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• 제60권11호
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• pp.344-352
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• 2017

Arrhythmias in the neonatal period are not uncommon, and may occur in neonates with a normal heart or in those with structural heart disease. Neonatal arrhythmias are classified as either benign or nonbenign. Benign arrhythmias include sinus arrhythmia, premature atrial contraction, premature ventricular contraction, and junctional rhythm; these arrhythmias have no clinical significance and do not need therapy. Supraventricular tachycardia, ventricular tachycardia, atrioventricular conduction abnormalities, and genetic arrhythmia such as congenital long-QT syndrome are classified as nonbenign arrhythmias. Although most neonatal arrhythmias are asymptomatic and rarely life-threatening, the prognosis depends on the early recognition and proper management of the condition in some serious cases. Precise diagnosis with risk stratification of patients with nonbenign neonatal arrhythmia is needed to reduce morbidity and mortality. In this article, I review the current understanding of the common clinical presentation, etiology, natural history, and management of neonatal arrhythmias in the absence of an underlying congenital heart disease.

• Journal of Chest Surgery
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• 제33권9호
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• pp.752-755
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• 2000

Isolated congenital aneurysm of the left atrium with intact pericardium is a rate anomaly, which usually presents with arrhythmia, cerebral embolism or abnormalities on routine chest X-ray. Surgery is indicated in most cases to eliminate a potential source of systemic emboli and arrhythmias. A 42-year-old woman having cervical cancer, she was suspected of having a left atrial aneurysm on review of chest X-ray and confirmed by echocardiography and cardiac catheterization. Surgical resection of Left atrial aneurysm was achieved without complication using median sternotomy with cardiopulmonary bypass. The postoperative course was uneventful.

• 대한두개안면성형외과학회지
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• 제18권4호
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• pp.287-291
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• 2017

Preauricular sinus is a congenital malformation that is very commonly encountered among the general population and it has especially high prevalence among Asians when compared to other ethnic groups. It can often go unnoticed or easily overlooked by the patient or even by doctors because most of them are asymptomatic and is most of the time only a tiny pit that can be trivial in terms of aesthetics. We report a very rare and unique case that has no precedence what so ever; hence no reported case in the literature: an ectopic preauricular sinus in a facial cleft and microsomia patient.

• Journal of Genetic Medicine
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• 제9권1호
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• pp.35-37
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• 2012

Emanuel syndrome is a rare genomic syndrome which is characterized by multiple congenital anomalies and developmental disability. This syndrome is related to the presence of the supernumerary derivative chromosome originating from both chromosome 11 and 22. In most cases, one of the parents is a balanced carrier of a translocation. Our case results from 3:1 meiotic segregation of the maternal translocation carrier and is a rare case in Korea confirmed by genetic analysis.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권2호
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• pp.189-192
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• 2019

Gastric duplication cysts (GDCs) are rare congenital anomalies. Presentation of GDCs varies from an asymptomatic abdominal mass to fulminant or massive gastrointestinal (GI) bleeding. Herein, we describe a case of a GDC in a 10-month-old infant presenting with unexplained massive GI hemorrhage and hematemesis. An abdominal ultrasound was negative, while computerized tomography was, initially, inaccessible. Through a series of repeated esophagogastroduodenoscopies, we documented penetration of the GDC into the gastric cavity that was later confirmed by computerized tomography. The patient was treated successfully with surgical resection.

• 대한두개안면성형외과학회지
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• 제23권5호
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• pp.241-245
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• 2022

Cervical chondrocutaneous branchial remnants are very rare congenital lesions of the lateral neck; thus, our knowledge of this condition derives almost entirely from occasional case reports in the literature. They are thought to originate from the branchial arches and, therefore, can be found anywhere on the pathway along which those branchial arches migrate during embryogenesis. We report the case of a 5-year-old girl presenting with a cervical chondrocutaneous branchial remnant on the right lateral neck that had existed since birth, with no other anomalies.

• 대한수의학회지
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• 제53권4호
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• pp.265-267
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• 2013

A 3-month-old, intact male French bulldog was suspected of deafness. The dog was irresponsive to environmental noises generated out of sight, but normal responses were noted for visual stimuli. No abnormalities were observed on the neurological, otoscopic, radiographic, and blood examinations. To diagnose the apparent deafness, brainstem auditory evoked potential (BAEP) was recorded in the presented dog together with a normal dog. While the BAEP from the control dog showed a normal wave consisting of 5 peaks, absence of all peaks was noted in the suspected deaf dog. Therefore the dog was definitively diagnosed as bilaterally congenital sensorineural deafness.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.36-39
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• 2014

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the syndrome are delayed development, dysmorphic features, and several other congenital anomalies. Here, we describe the case of a 2-year-old Korean girl with typical features of 3p deletion syndrome, including dysmorphic facial features, low birth weight, developmental delay, growth and cognitive retardation, and congenital heart disease. This case represents the first report of 3p deletion syndrome in Korea. Although phenotypes can be variable among patients, a clinically recognizable pattern has been described for this genetic defect, and our report helps to identify other cases with 3p deletion syndrome from a clinical and genetic perspective.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제22권6호
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• pp.594-600
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• 2019

With improving survival of children with complex congenital heart disease (CCHD), postoperative complications, like protein-losing enteropathy (PLE) are increasingly encountered. A 3-year-old girl with surgically corrected CCHD (ventricular inversion/L-transposition of the great arteries, ventricular septal defect, pulmonary atresia, postdouble switch procedure [Rastelli and Glenn]) developed chylothoraces. She was treated with pleurodesis, thoracic duct ligation and subsequently developed chylous ascites and PLE (serum albumin ${\leq}0.9g/dL$) and was malnourished, despite nutritional rehabilitation. Lymphangioscintigraphy/single-photon emission computed tomography showed lymphatic obstruction at the cisterna chyli level. A segmental chyle leak and chylous lymphangiectasia were confirmed by gastrointestinal endoscopy, magnetic resonance (MR) enterography, and MR lymphangiography. Selective glue embolization of leaking intestinal lymphatic trunks led to prompt reversal of PLE. Serum albumin level and weight gain markedly improved and have been maintained for over 3 years. Selective interventional embolization reversed this devastating lymphatic complication of surgically corrected CCHD.