• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.152-156
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• 2016

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.

• Journal of Chest Surgery
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• v.17 no.4
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• pp.723-728
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• 1984

Congenital diaphragmatic hernia through of Bochdalek foramen, posterolateral diaphragmatic hernia, is the result of a congenital malformation of the posterolateral region of the diaphragm. Bochdalek hernia is not a rare anomaly and is the most common type of congenital diaphragmatic hernia. The defect is more frequently on left [about 5 times]. The purpose of this paper to present the Authors recent experience with two cases of the congenital posterolateral diaphragmatic hernia adult women which was treated surgically in the Dept, Thoracic Surgery, Chosun University Hospital. The postoperative course was uneventful and both of them were discharged without any other complications. Our study and surgical experience was discussed and the literature reviewed.

• Journal of Chest Surgery
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• v.48 no.5
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• pp.355-358
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• 2015

Isolated congenital left ventricular diverticulum is a rare cardiac malformation. Here, we report the case of a 33-year-old woman who had suffered from recurrent transient ischemic attacks for 6 years. Preoperative cardiac magnetic resonance imaging and computed tomography angiography revealed a diverticulum near the apex. The diverticulum was successfully obliterated by cardiopulmonary bypass. We suggest that isolated congenital left ventricular diverticulum can be easily corrected with a low surgical risk by patch repair and plication techniques.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.43 no.6
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• pp.423-426
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• 2017

Congenital auricular deformities may be either deformational or malformational. Malformational anomalies present with a skin or cartilage shortage. Two cases with congenital cleft earlobe were presented. A new surgical technique using a two-layered repair with front and back flaps were introduced. She waited to begin wearing earrings until six months after the surgery to prevent possible scar contracture. The patients were followed up for a period ranging from 3 to 14 months. The earlobe volume deficiency was replaced, and acceptable scar maturation was obtained.

• Journal of Chest Surgery
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• v.17 no.1
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• pp.118-124
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• 1984

Congenital Cystic Adenomatiod Malformation (C.C.A.M.) is rare, but one of the most common congenital pulmonary anomalies that cause acute respiratory distress in the newborn infants. It is characterized and differentiated from the diffuse pulmonary cystic disease pathologically, i.e. adenomatoid appearance due to marked proliferation of the terminal respiratory components. An 2/12 year old male patient was suffered from respiratory distress and cyanosis on crying since birth, but no specific therapy was given. With progression of symptoms, he came to Korea University Hospital for further evaluation and then transfered to Dept. of Chest Surgery for operative correction under the impression of Congenital Obstructive Emphysema suggested by a pediatrician. On gestational and family history, there was nothing to be concerned such as congenital anomaly. Physical examinations showed; moderate nourishment and development (Wt. 5.5kg), cyanosis on crying, both intercostal and lower sternal retraction on inspiration, Lt. chest building with tympany, Rt. shifting of cardiac dullness, decreased breathing sound with expiratory wheezing on entire Lt. lung field, decreased breathing sound on Rt. upper lung filed, and tachycardia. The remainders were nonspecific. Laboratory findings were normal except WBC $14000/mm^3$ (lymphocyte 70%), Hgb 9.8m%, Hct 28%, negative Mantaux test, and sinus tachycardia and counter-clockwise rotation on EKG. Preoperative simple Chest PA revealed marked hyperlucent entire Lt. lung, herniation of Lt. upper lobe to Rt., collapsed Rt. upper lobe, tracheal deviation and mediastinal shifting to Rt., and no pleural reaction. At operation, after Lt. posterolateral thoracotomy, 4th rib was resected. Operative findings were severe emphysematous changes limited to both lingular segmentectomy was done. The resected specimen showed slight solidity, measuring $8{\times}4.5{\times}2cm$ in size, and small multiple cystic spaces filled with air. Microscopically, entire tissue structures were glandular in appearance, cyst were lined by ciliated columnar epithelium, and occasional cartilages were noted around the cystic spaces. Bronchial elements were dilated but normal pattern on histologically. The patient had a good postoperative courses clinically and radiologically, and discharged on POD 10th without event. The authors report a case of Cogenital Cystic Adenomatoid Malformation (C.C.A.M.)

• Tuberculosis and Respiratory Diseases
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• v.43 no.5
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• pp.805-811
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• 1996

Congenital cystic adenomatoid malformation of the Lung(CCAM) is characterized by anomalous fetal development of terminal respiratory structures, resulting in an adenomatoid proliferation of bronchiolar elements and cystic formation. CCAM was first described and differentiated from other cystic lung disease in the English literature by Ch'in and Tang in 1949. CCAN is a rare, potentially lethal form of congenital pulmonary cystic disease and the salient features of lesion are an irregular network of terminal respiratory bronchiole-like structures and macrocysts variably lined by pseudostratified ciliated columnar epithelium and simple cuboidal epithelium. Adult presentation of CCAM of the lung is so rare that only 9 cases have been reported in the literature of date. The pathogenesis of CCAM remains disputed and reseachers have variously proposed that the lesion represents a developmental anomaly, hamartoma, or a fonn of pulmonary dysplasia. Van Dijk and Wagenvoort divided CCAM into three subtypes : cystic, intermediated, and solid. These correspond to types I, II, and III of Stocker. In adults, the evaluation of cystic or multi cystic lung disease requires consideration of a differential diagnosis including the acquired lesions of lung abscess, cavitary neoplasm or inflammatory mass, bullous disease, bronchiectasis, and postionflammatory pneumatocele. Congenital lesions such as sequestration, bronchopulmonary-foregut anomalies, and bronchogenic cyst are also encounted. The definitive treatment for CCAM is complele removal of the involved lobe. Panial lobectomy leads to multiple complications, including severe post-operative infection. We report a case of CCAM in a 14-year-old female presentated with a pneumothorax and large bullae, who was treated by surgical remove of the involved lobe.

• Clinical and Experimental Pediatrics
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• v.60 no.1
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• pp.1-9
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• 2017

Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development.

• Journal of Chest Surgery
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• v.50 no.3
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• pp.207-210
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• 2017

The extracardiac conduit Fontan procedure is the last surgical step in the treatment of patients with a functional single ventricle. An acquired pulmonary arteriovenous malformation may appear perioperatively or postoperatively due to an uneven hepatic flow distribution. Here we report a case of a bifurcated Y-graft Fontan operation in a 15-year-old male patient with a unilateral pulmonary arteriovenous malformation after an extracardiac conduit Fontan operation.

• Clinical and Experimental Pediatrics
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• v.56 no.3
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• pp.135-138
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• 2013

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.

• Journal of Korean Neurosurgical Society
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• v.41 no.1
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• pp.57-60
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• 2007

The incidence of diastematomyelia associated with teratoma is extremely rare. We present a case of sacrococcygeal teratoma in a neonate with split spinal cord malformation[SSCM]. Magnetic resonance imaging[MRI] showed a heterogenous mass lesion with cyst in the sacrococcygeal region and multiple spinal anormalies [diastematomyelia, tethered cord, hydromyelia, and hemivertebrae]. The mature teratoma was confirmed on histopathological examination. In SSCMs, the potential for coexisting congenital anomalies at separate levels of the spinal cord must be considered in radiological investigations.