• Journal of Chest Surgery
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• 제40권11호
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• pp.793-797
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• 2007

Communicating bronchopulmonary foregut malformation (CBPFM)은 매우 드문 선천성 기형으로 격리된 호흡계 조직과 식도 또는 위장 사이의 누관이 특징적이다. 원시위장관에서 기원한 부속의 폐조직이 모든 종류의 bronchopulmonary furegut malformation 발생의 중요한 요인이 된다. 반복되는 폐렴이 있는 환자의 chest X-ray에서 낭성 병변이 보인다면 CBPFM을 생각해봐야 하며, 진단적 방법으로 식도조영술, 기관조영술, 컴퓨터 단층촬영, 자기공명영상 그리고 혈관조영술 등이 도움이 된다. 치료는 수술적 제거가 권장되며 예후도 좋다. 좌측 완전 심낭결손증과 동반되었으며, 이중식도에 연결된 외엽성 폐격리증과 기관지성 낭종을 보인 CBPFM 1예를 보고한다.

• Journal of Genetic Medicine
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• 제12권2호
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• pp.123-127
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• 2015

Distal limb deformities are congenital malformations with phenotypic variability and high genetic heterogeneity. Split hand/foot malformation, also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of the hands and/or feet. Split hand/foot malformation with long-bone deficiency (SHFLD) is a rare condition related to a 17p13.3 duplication. Recently, genomic duplications encompassing BHLHA9 have been associated with SHFLD. We report a case of SHFLD presenting with campomelia of the right femur, bilateral agenesis of fibulae, bilateral club feet, and oligosyndactyly of the hands and feet, that was associated with a 17p13.3 duplication, as determined prenatally using array comparative genomic hybridization.

• Archives of Plastic Surgery
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• 제47권3호
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• pp.272-276
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• 2020

Anorectal malformation or imperforate anus is a congenital anomaly of rectum and anus. Mullerian duct anomalies are abnormal development of uterus, cervix, and vagina. Imperforate anus with double uterus is extremely rare and cannot explain by normal embryologic development. Moreover, guideline in treatment is inconclusive. We report an extremely rare case of a young adult female who presented with recurrent pelvic inflammatory disease caused by rectovaginal fistula in congenital imperforate anus and didelphys uterus, and successfully neoanal reconstruction with gracilis muscle flap. Aims for treatment are closed rectovaginal fistula, and anal sphincter reconstruction. To our best knowledge, the imperforate anus with double uterus is extremely rare anomaly. Furthermore, successfully anal sphincter reconstruction with functional gracilis muscle in the imperforate anus with double uterus has never been reported in English literature.

• Journal of Chest Surgery
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• 제23권4호
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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.

• Journal of Chest Surgery
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• 제27권9호
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• pp.804-807
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• 1994

Pulmonary sequestration is an unusual congenital malformation characterized by the presence of nonfunctioning lung tissue which usually has no communication with the normal bronchial tree and receives its blood supply from an anomalous systemic artery. Extralobar form is a very rare congenital malformation. We have experienced a 54 year old female patient with a mass in the upper lobe complaining of cough and blood tinged sputum. A triangular shaped mass was located in the left upper lobe, medially. The arterial blood supply were from the thoracic aorta and the pulmonary artery but there was no the tracheobronchial communication. The venous drainage was through the pulmonary vein. The mass was confirmed as extralobar pulmonary sequestration associated with a pericardial defect.

• Journal of Chest Surgery
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• 제17권2호
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• pp.326-330
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• 1984

Congenital Cystic Adenomatoid Malformation [C.C.A.M], one of lung bud anomalies, is an unusual lesion, only about 200 cases baring been reported by 1980, and characterized by marked proliferation of terminal respiratory structures. Recently we experienced two infants with C.C.A,M., whose clinical courses were quite different. On case 1, the patient was 25-day-old female, and suffered from progressive respiratory distress for 10 days duration. A right middle lobectomy was performed, with a satisfactory postoperative course. On case II, the patient was 7omonth-old male, and admitted for evaluation of known pulmonary anomaly, which was detected for the first time during hospitalization for treatment of pneumonia at 1 month of his age. He underwent a lingular segmentectomy, but died of respiratory insufficiency on postop 10th day. We believe that awareness of the presence of C.C.A.M. is important in making the differential diagnosis of progressive respiratory disease or of recurrent pulmonary infection in infants.

• 대한골관절종양학회지
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• 제10권1호
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• pp.50-55
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• 2004

진행성 골화성 섬유이형성증은 매우 드문 유전적 질환이기는 하나 영유아 초기에 경부나 두부의 종괴에 동반하여 나타나는 특징적인 양측성의 족부 모지의 선천성 기형으로 진단이 가능하다. 그러나 오진으로 인한 잘못된 치료와 그로 인한 합병증이 병의 진행을 더 악화시킬 수 있으며 불필요한 처치를 행할 수 있어 처음 진단에 주의를 요하는 질환이다. 이에 저자는 이질환의 자연적 경과와 더불어 잘못된 치료로 인해 발생한 성인에서의 양상을 보고하는 바이다.

• Journal of Chest Surgery
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• 제28권2호
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• pp.196-200
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• 1995

Congenital Cystic Adenomatoid Malformation [C.C.A.M. is rare, cause acute respiratory distress in the newborn infants. The histologic features are cystic areas and marked proliferation of terminal respiratory structures. On case 1, the patient was 8-month-old male, and suffered from acute respiratory distress and cyanosis. The pulmonary cystic lesion was detected in right lung at birth and has been evaluated since birth. The study for diagnosis were chest x-ray and chest CT. A right upper lobectomy was urgently performed and he was discharged with a satisfactory postoperative course. On case 2, the patient was 20-year-old female, and suffered from cough and sputum for 2 months. The study for diagnosis were chest x-ray, chest CT, and pulmonary angiography. The cystic lesion was detected in left lung and difficult to distinguish from pulmonary sequestration. A left lower lobectomy was performed and she was discharged with a satisfactory postoperative course. We report two cases of C.C.A.M. with differential clinical course.

• Journal of Dental Anesthesia and Pain Medicine
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• 제17권3호
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• pp.215-217
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• 2017

Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management. A 13-year-old girl diagnosed with BOR had severe right hearing loss, right external ear malformation, renal abnormalities, and postoperative patent ductus arteriosus (PDA). Dental extraction under general anesthesia was scheduled for a supernumerary tooth. The procedure was completed with sufficient urine volume, adequate airway management, and stable hemodynamics.

• Journal of Chest Surgery
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• 제18권4호
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• pp.785-791
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• 1985

The congenital cystic adenomatoid malformation [C.C.A.M.] of the lung is a rare lesion consisted of multiple cysts in the pulmonary parenchyma lined cuboidal or columnar epithelium. The C.C.A.M. presents clinically in three ways:[1] stillborn or perinatal death, [2] progressive respiratory distress in the newborn, and [3] acute and chronic pulmonary nfections in the older infant and child. We recently experienced two cases of C.C.A.M. of the lung, and have good surgical results. The first case was 29 days old male and the second case was 16 month old female who have been suffered from severe respiratory difficulty and pulmonary infection repeatedly each other. The lobectomies were performed, and the postoperative course was uneventful.