• Tuberculosis and Respiratory Diseases
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• 제42권5호
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• pp.767-771
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• 1995

저자등은 객혈을 주소로 내원한 기관지동맥과 폐정맥의 동정맥기형 1예를 기관지동맥 조영술로 확진하고 치료하였기에 문헌고찰과 함께 보고하는 바이다.

• Journal of Gastric Cancer
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• 제15권1호
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• pp.58-63
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• 2015

Gastric duplication cyst is a rare congenital anomaly of the gastrointestinal tract and is especially uncommon in adults. Most cases in adults are discovered incidentally on radiological examination or gastric endoscopy. Accurate diagnosis of these cysts before resection is difficult. Differential diagnoses are varied. Malignant transformation of a gastric duplication cyst is very rare. We present three cases of asymptomatic noncommunicating gastric duplication cysts in adults.

• Archives of Plastic Surgery
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• 제38권4호
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• pp.485-489
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• 2011

Purpose: Median cleft of upper lip is defined as any congenital vertical cleft through the midline of the upper lip. It is uncommon, its embryological pathogenesis remains unexplained to date. The authors hereby report a rare case of median cleft of the upper lip associated with enlarged frenulum and palatal mass. This case offers some understanding of the possible embryologic development of this anomaly. Methods: A 10-month-old boy born by normal vaginal delivery at full-term had a notch in the midline of the upper lip with widened philtrum along with enlarged median frenulum, alveolar cleft, and mass of the hard palate. We performed en bloc resection of the enlarged frenulum and palatal mass and cheiloplasty under general anesthesia. Results: Histological examination revealed that the frenulum and palatal mass was consisted of fibrous tissue with normal mucous membrane. The postoperative course was satisfactory. Conclusion: A rare case of median cleft of the upper lip with associated enlarged frenulum and palatal mass was presented with proper surgical management. The surgical technique includes marginal excision of the clefted epithelium and reconstruction of orbicularis oris muscle, in addition to en bloc resection of the palatal mass and frenulotomy.

• Archives of Plastic Surgery
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• 제36권5호
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• pp.642-648
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• 2009

Purpose: Hexadactyly without thumb is a rare congenital anomaly of the hand where six triphalangeal digits are symmetrically distributed without thumb. Contrary to mirror hands, triphalangeal six digits are symmetrically distributed on each side at the midline with well - differentiated carpal bones, extensor tendons, one ulnar and one radius. The authors developed a new surgical technique based on a three - dimensional concept to correct the hexadactyly and applied to 2 cases of hexadactyly with good functional and aesthetic results. Here we document the surgical technique and its result. Methods: A 16 month old male patient visited our clinic with chief complaints of bilateral hexadactyly deformity. On physical examination most radial first and second digits showed no opposition and adduction motion on both side hands. Radiography showed 6 triphalangeal digits with normal development of carpal, radial and ulnar bone. Right side abnormality was corrected by removal of most radial side extra - digit, rotation and migration of 2nd ray to thumb position and creation of 1st web by transposing a mid - palm based rectangular palmar flap as in Snow & Littler procedure which has been being applied for correction of 1st web syndactyly in cleft hand deformity. Seven months later, left side abnormality was also corrected with the same procedure. Results: Postoperative appearances of the both hands were satisfactory. Flexion, extension, opposition and grasping were possible with the pollicized 2nd ray. Pinching power was 3.0 kg 15 months after surgery and 2.5 kg 22 months after in right hand respectively. Conclusion: In correction of hexadactyly deformity, satisfactory aesthetic and relevant functional results can be expected with authors' newly developed technique: removal of most radial digit, rotation and migration of 2nd digit to thumb position as well as creation of the 1st web space by transposition of mid - palm based rectangular flap.

• Journal of Chest Surgery
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• 제31권9호
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• pp.915-918
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• 1998

Poland씨 증후군과 관련된 흉벽기형은 매우 드문 질환으로 선천적으로 대흉근의 흉골부 결손과 한쪽 상지의 다양한 기형을 동반한다. 또한 Poland씨 증후군의 다른 임상적 특징은 유방과 유두의 결손 및 저형성, 피하 지방과 액모의 결손, 늑연골 및 늑골전면부의 이상을 포함한다. 그 기원은 확실하지 않으나 유전과는 관계 가 없는 것으로 알려져 있다. Poland씨 증후군은 심한 정신적인 그리고 신체적인 문제를 일으킬 수 있으며 초기 발견 및 수술적 교정이 이득이 될 것으로 생각된다. 본원은 Poland씨 증후군으로 진단된 37세 남자환자를 성공적으로 수술치험하였기에 이를 보고하는 바이다.

• Journal of Chest Surgery
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• 제14권4호
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• pp.388-398
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• 1981

Fourteen Infants with congenital cardiac anomalies underwent primary surgical Intervention within the first 12 months of life. There were eight patients with ventricular septal defect, two with total anomalous pulmonary venous return [TAPVR], and the remainders with tetralogy of Fallot, transposition of great arteries [d-TGA], Taussing-Bing malformation, and coronary A-V fistula. The age of the patients ranged from 5 to 12 months, with a mean age of 9.9 months. The mean weight was 6.7 Kg [3.8 to 9.5 KS]. Congestive heart failure persisting despite intensive medical treatment was present In 8 patients [56%], and was the most common indication for operation. Early operation was necessary in 5 of these patients [35%], because of failure to thrive and recurrent pulmonary infection. In one patient with TOF, frequent hypoxic spell prompted the necessity for early operation. In cases of VSD, TAP. VR, TOF, and coronary A-V fistula, Intracardiac repair was done with conventional cardiopulmonary bypass, chemical cold cardioplegia, and topical myocardial cooling. Deep hypothermic circulatory arrest with surface induced cooling, followed by core cooling and core rewarming, was employed .for better exposure in the cases of d-TGA and Taussing-Bing malformation. The results were however, not satisfactory. The overall mortality was 28 per cent. There were no deaths in the eight patients with VSD. The one with coronary A-V fistula survived. The other 5 cases all expired either on the table or immediately after operation. The non-fatal post-operative complications included low cardiac output, respiratory insufficiency, bleeding, and temporary A-V block. The causes of death were prolonged circulatory arrest time in d-TGA, complete A-V block and low cardiac output in TOF and Taussing-Bing malformation and prolonged bypass time and Inadequate correction in TAPVR.

• Journal of Chest Surgery
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• 제5권2호
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• pp.107-112
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• 1972

Recently we experienced a case of the portal hypertension, extrahepatlc origin in the National Medical Center, Seoul. The case was a male aged 19 who was undergone the elective splenorenal shunt with splenectomy 9 years ago and emergency ligation of the coronary vein because of recurred variceal rupture 6 years later and had recurring esophageal varices with bleeding this time.At the age of 10 he had been occasionally suffering from nasal bleeding and visited to our Pediatric department, when there was encountered for the first time the splenomegaly, esophageal varices in the lower third esophagus on the esophagogram, and stenosis and kinking of the portal vein with rich collateral circulation on the splenoportography without hepatic functional impairment.The elective splenorenal shunt with splenectomy was undergone under the diagnosis of portal hypertension due to congenital anomaly of the portal vein and postoperatlvely no troubles had been obtained until postoperative 1st attack of massive hematemesis due to esophagenl variceal rupture recurred about 6 years later which was confirmed by control esophagogram and it was resulted by stenosis of previous anastomotic site of the splenorenal shunt.Then emergency ligation of the coronary vein was only made for bleeding control and no episodes of hematemesis had been encountered thereafter until April 1972 about 3 years after the 2nd operation, when hematemesis recurred again. In this time, recurring esophageal varices were noted in the lower third esophagus on the control esophagogram and he was employed side to end mesocaval shunt as the final step of portal decompression,and following results were obtained. 1] No postoperatlve troubles as leg edema or pain: Postoperatively leg elevation and elastic bandage on the both legs were employed until discharge. 2] During operation the portal pressure was 300 mm $H_2O$ and immediately lowered to 170 mm $H_2O$ after shunt.

• Journal of Chest Surgery
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• 제40권1호
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• pp.60-62
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• 2007

폐 형성 저하증은 폐 무발생의 한 분류이다. 폐 무발생은 대부분 출생시 진단되는 매우 드문 질환으로, 심혈관계 기형과 같은 다른 기형이 흔히 동반된다. 소아기에 사망할 수도 있지만, 정상적인 성장을 하는 경우도 있다. 저자들은 수술 전 흉부 전산화 단층촬영에서 종격동의 심한 우측 편위와 우측 폐 실질의 허탈이 관찰되었던 폐 형성 저하증이 있는 젊은 여자에서 우측 측방 개흉술을 통한 승모판막 성형술을 시행하였다.

• Journal of Genetic Medicine
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• 제7권2호
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• pp.151-155
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• 2010

Apert 증후군은 두부와 손발의 골 및 연부조직의 성장장애로 인해 발생하는 선천적 질환으로 두개골의 기형과 사지의 대칭적 합지증을 특징으로 하는 드문 질환이다. Apert증후군은 변이된 FGFR2 유전자에 의해 발생한다고 알려져 있으며 세계적으로 S252W 돌연변이가 가장 흔하고, P253R돌연변이는 드물게 보고되고 있다. 국내에서는 엑손IIIa에서 S252W 돌연변이가 보고된 경우가 있다. 본 증례에서는 두 개 봉합선의 조기 융합으로 인한 두부의 특징적인 기형, 손과 발의 심한 합지증을 동반하는 전형적인 Apert 증후군 영아에서 FGFR2 유전자의 8번째 엑손부위에서의 P253R 돌연변이가 확인되었기에 보고하는 바이다. 향후 유전자-표현자형의 대한 연구, 발생 기전 및 치료와 관련한 분자 생물학적 연구가 더 필요할 것으로 사료된다.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.