• Journal of Chest Surgery
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• v.32 no.6
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• pp.584-587
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• 1999

The DiGeorge syndrome is a rare congenital abnormality consisting of aplasia or hypoplasia of the thymus and parathyroid glands resulting from malformation of the third and fourth pharyngeal pouches. This syndrome usually includes congenital cardiac anomalies and abnormal facial features. We experienced a case of congenital cardiac anomaly associated with DiGeorge syndrome. The patient was 1 month old boy weighing 3.5 kg. The congenital cardiac anomalies included ventricular septal defect, atrial septal defect, coactation of aorta, and patent ductus arteriosus. We performed one-stage operation with two separate incisions for these cardiac anomalies. Postoperative course was uneventful and the patient at 6 months of follow up is doing well.

• Journal of Chest Surgery
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• v.20 no.2
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• pp.404-410
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• 1987

An 18-day-old male neonate with hypoplastic left heart syndrome underwent surgical intervention by modification of the Norwood procedure on September 23, 1986. Hypoplastic left heart syndrome is a serious congenital cardiac anomaly that has a fatal outlook if left untreated. Included in this anomaly are [1] aortic valve atresia, and hypoplasia of the ascending aorta and aortic arch, [1] mitral valve atresia or hypoplasia, and [3] diminutive or absent left ventricle. Patent ductus arteriosus is essential for any survival, and there is usually a patent foramen ovale. Coarctation of the aorta is frequently associated with the lesion.z With a limited period of cardiopulmonary bypass, deep hypothermia, and circulatory arrest, the ductus arteriosus was excised. The main pulmonary artery was divided immediately below its branches, and the distal stump of the divided pulmonary artery was closed with a pericardial patch. The aortic arch was incised, and a 1 5mm tubular Dacron prosthesis was inserted between the main pulmonary artery and the aortic arch. A 4mm shunt of polytetrafluoroethylene graft was established between the new ascending aorta and the right pulmonary artery to provide controlled pulmonary blood flow. Following rewarming, the heart started to beat regularly, but the patient could not be weaned from cardiopulmonary bypass. At autopsy, the patient was found to have hypoplasia of the aortic tract complex with mitral atresia and aortic atresia. A secundum atrial septal defect was noted. Right atrial and ventricular hypertrophy was present, and the left ventricle was entirely absent. Although unsuccessful in this case report, continuing experience with hypoplastic left heart syndrome will lead to an improvement in result.

• The korean journal of orthodontics
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• v.52 no.6
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• pp.451-460
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• 2022

Moebius syndrome (MBS) is a congenital neurologic disorder that causes cranio-facial abnormalities. It involves paralysis of the VI and VII cranial nerves and causes bilateral or unilateral facial paralysis, eye movement disorder, and deformation of the upper and lower limbs. The orofacial dysfunctions include microstomia, micrognathia, hypotonic mimetic and lip muscles, dental enamel hypoplasia, tongue deformity, open bite or deep overbite, maxillary hypoplasia, high arched palate, mandibular hyperplasia or features indicating mandibular hypoplasia. This case report presents a 7-year-old male patient who was diagnosed with MBS at the age 2 years. The patient displayed typical clinical symptoms and was diagnosed with Class II malocclusion with a large overjet/overbite, tongue deformity and motion limitation, and lip closure incompetency. Treatment was initiated using a removable appliance for left scissor bite correction. After permanent tooth eruption, fixed appliance treatment was performed for correction of the arch width discrepancy and deep overbite. A self-ligation system and wide-width arch form wire were used during the treatment to expand the arch width. After 30 months of phase II treatment, the alignment of the dental arch and stable molar occlusion was achieved. Function and occlusion remained stable with a Class I canine and molar relationship, and a normal overjet/overbite was maintained after 9.4 years of retainer use. In MBS patients, it is important to achieve an accurate early diagnosis, and implement a multidisciplinary treatment approach and long-term retention and follow-up.

• Clinical and Experimental Pediatrics
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• v.46 no.8
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• pp.831-835
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• 2003

Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21.

• Proceedings of the Korean Society of Veterinary Clinics Conference
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• 2009.10a
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• pp.211-211
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• 2009

• Korean Journal of Animal Reproduction
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• v.23 no.1
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• pp.63-68
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• 1999

A 4-year old Korean-native cow of third parturition delivered an deformed calf with congenital anasarca and hypoplasia of the extremity at Muan County in Chonnam Province. At parturition, the dam showed amniotic fluid approximately two times more than that at the normal and also occurred severe dystocia. The anomaly died before parturition was 82 cm long and weighed 25 kg. It was difficult to recognize the neck and face of the anomaly due to severe edema and the stretched tongue through mouth was found. The shape of the extremity was recognizable and the systemic hypoplasia of the body with marked edema was found. At necropsy, there was a large amount of serous fluid both in pleural and peritoneal cavity. Also the fluid was contained some of yellowish granular materials and diffusely was fulfilled in all subcutaneous tissue. There was a partial opening in diaphragm which was resulted in the protrusion of approximately half of liver toward peritoneal cavity. There were two kidneys (15${\times}$21 and 13${\times}$18 cm) on the left which were enlarged and relatively larger than the right one (13${\times}$9 cm). In addition, there were found slight to moderate hepatomegaly and splenomegaly with slight congestion, and diffuse edema of intestinal serosa. Lung (32${\times}$49 mm) with marked hypoplasia was smaller than the size of heart (56${\times}$45mm). Serological test to the dam showed relatively high antibody titer (＞64) to Akabane virus which might be involved in the outbreak of the deformed Korean-native calf as one of many causative agents.

• Journal of Chest Surgery
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• v.28 no.9
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• pp.837-841
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• 1995

Between June 1981 and April 1994, 15 patients underwent surgical repair of diaphragmatic hernia. The ages ranged from 1 day to 60 years, with a mean age of 34. There were 5 cases of congenital diaphragmatic hernia; Bochdalek hernia in 4 cases and Morgagni hernia in 1 case. There were 10 cases of traumatic diaphragmatic hernia;blunt trauma in 8 cases and stab wounds in 2 cases. The chest X-ray findings were abnormal in 10 cases. Operations were performed in all patients and there was only one death, who was a newborn with left Bochdalek hernia and pulmonary hypoplasia.

• Journal of Chest Surgery
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• v.27 no.11
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• pp.965-969
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• 1994

Infantile lobar emphysema is a pulmonary hyperinflation state that has the clinical features of an air block syndrome characterized by bronchial cartilaginous abnormalities or unknown origin. Left upper lobe was affected in most of the reported infantile lobar emphysema. Infantile lobar emphyema is divided into two categories. e.g., congenital and acquired. We have experienced a case of left lower lobe involved infantile lobar emphysema which had undergone left pneumonectomy. She had progressive signs of tension accompanied by mediastinal displacement, ventilatory and circulatory failure in infant period. Because of the combined left upper lobe hypoplasia, left pneumonectomy was performed. And there was no cartiliginous abnormality in pathologic finding. This is the first domestic case which was affected in the lower lobe and successful surgical repaired.

• Clinical and Experimental Pediatrics
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• v.46 no.3
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• pp.291-294
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• 2003

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate, scoliosis and left foot valgus, but normal brain MRI. Chromosome study from peripheral blood showed 46,XY, r(21)(p11.2q22.1) karyotype. The authors report the first case of ring chromosome 21 in Korea with a review of the literature.

• Journal of Chest Surgery
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• v.23 no.4
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• pp.698-706
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• 1990

Congenital Cystic Lung Disease is a spectrum of closed related anomalies that arise during an early stage of embryonic lung bud maturation-namely bronchogenic cyst, congenital lobar emphysema, pulmonary sequestration and congenital cystic adenomatoid malformation. And they show similar surgical strategies. So they are called as the term bronchopulmonary-foregut malformations, firstly proposed by Gerle[1968]. From Aug. 1979 to Aug 1989, 47 patients were operated upon on Dept. of Thoracic & Cardiovascular Surgery at the CUMC. There were 21 females and 26 males ranging in age from age of 21 day to age of 56 year [15 cases under 15 years old]. 30 patients had bronchogenic cysts - 23 of intrapulmonary type, 7 of mediastinal type in location. Affected lobes and locations were as follows: 11 in upper lobe, 3 in middle lobe, 11 in lower lobe and anterosuperior, middle, and posterior mediastinal type were 3, 2, 2 respectively. There were 9 pulmonary sequestrations[all intralobar type] with the distribution of 5 in right lower lobe and 4 in left lower lobe. And associated anomalies were presented with arterial supply originating from thoracic aorta[8 cases], abdominal aorta[1 case] and with venous drainage into azygos vein[1 case]. They all were operated upon lower lobectomy [8 case], pneumonectomy[1 case] in case of pulmonary hypoplasia Congenital lobar emphysema and congenital cystic adenomatoid malformation had 4 cases respectively. Their affected lobes were as follows: the former were 3 in upper lobes, 1 in middle lobe and the latter were 3 in upper lobe, 1 in lower lobe. They were treated with lobectomy and segmentectomy. Diagnosis was aided by chest X - ray, bronchography, aortography, DSA and CT scan, They all were confirmed by pathologic exams. There were no hospital death but few minor morbidities such as, atelectasis-pneumonia[2], wound infection[2], prolonged chest tube placement[2]. We experienced surgical treatments of 47 cases for 10 years and reported them with literature review.