• Tuberculosis and Respiratory Diseases
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• 제39권6호
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• pp.548-553
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• 1992

저자들은 최근 시작된 수차례의 객혈을 주소로 본원에 입원한 39세 남자 환자에서 좌측 폐동맥 형성부전증으로 확진하였기에 문헌 고찰과 함께 보고하는 바이다.

• 한국수정란이식학회지
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• 제30권4호
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• pp.341-344
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• 2015

A 4-day-old, male Poodle dog was presented with dull, depressed and exhausted activity after the birth. On physical examination, the puppy showed arthrogryposis, muscular atrophy and no movement of hindlimbs. Palpation on dorsum revealed an absence of lumbar and sacral vertebrae. On prenatal and postnatal radiography, lumbar vertebrae, sacrum and coccygeal vertebrae were not visualized. On ultrasonography, bilateral kidney and urinary bladder were observed. On computed tomography, there were no apparent abnormalities in the forelimbs, cervical vertebrae or head, while lumbar vertebrae, sacrum and coccygeal vertebrae were not observed. At necropsy examination, the liver, stomach, intestine, kidney and urinary bladder were normal. This congenital anomaly was consistent with Perosomus elumbis. Perosomus elumbis in dogs is a rare condition of unknown etiology. In this report, Perosomus elumbis was evaluated with radiography, ultrasound and computed tomography.

• Journal of Chest Surgery
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• 제15권2호
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• pp.250-253
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• 1982

A persistent left superior vena cava draining into the left atrium associated with atresia of the coronary sinus-ostium, ASD, and PDA is a rare congenital anomaly. The patient was a 4 year-old female whose complaints were frequent URI and exertional dyspnea. The congenital heart anomaly was suspected at 2 months of her age. Chest films showed cardiomegaly [C-T ratio, 75%]. EKG, Echocardiography, cardiac catheterization and angiocardiography were performed. Open heart surgery was done under impression of LV-RA shunt, bilateral superior vena cavae, and ASD. At the time of operation, huge LA and RA, inferior vena caval defect of a secundum type ASD [1.5 x 3cm in diameter], absence of innominate vein, atresia of the coronary sinus-ostium, and persistent LSVC draining into LA were noted. Direct suture closure of ASD and ligation of LSVC were done. The patient`s postoperative course was somewhat eventful: systolic murmur at apex remained. Four months after the operation, congestive heart failure attacked a few times. PDA that was overlooked at the time of open heart surgery was detected through postoperative cardiac catheterization in.4 months later. Emergent operation for closure of PDA was performed on the day of recatheterization. After that, patient`s heart failure was easily controlled without any notable problem.

• Archives of Plastic Surgery
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• 제46권5호
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• pp.470-474
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• 2019

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ${\leq}2mg/L$, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.

• 대한소아치과학회지
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• 제44권1호
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• pp.56-63
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• 2017

국소적, 전신적 요인을 동반하지 않는 제1대구치의 맹출 지연은 해당 치아의 발육 지연을 동반한다. 본 연구의 목적은 제1대구치의 발육지연의 임상적 양상 및 동반하는 다른 치아의 발달 이상에 관하여 고찰하는 것이다. 국소적 요인이 없이 제1대구치 맹출 지연을 보이는 건강한 어린이 40명의 파노라마방사선 사진 분석을 시행하였다. 2명의 평가자가 Nolla 방법을 이용하여 해당 치아의 발육지연 여부, 해당 분악의 제2대구치 발육 이상 여부 및 제3대구치를 제외한 다른 치아의 선천적 결손 여부에 관하여 조사하였다. 제1대구치의 발육지연은 상악에서 호발하였고, 여성에게서 양측성 이환, 남성에게서 편측성 이환이 많이 관찰되었다. 제1대구치의 발육지연이 있는 환아는 유의하게 높은 선천적 결손치의 유병률을 보였으며, 이환된 분악의 제2대구치는 모두 발육 지연 혹은 선천적 결손의 이상을 보였다. 본 연구결과 제1대구치의 발육지연은 다른 치아의 선천적 결손과 밀접한 연관이 있는 것으로 나타났다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제11권1호
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• pp.56-59
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• 2008

저자들은 간의 거대 종괴와 심방 중격 결손으로 수술을 받았던 환아에서 복부 CT와 간 조직 검사를 통해 확인된 Abernethy 기형 2형 1예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제57권3호
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• pp.149-152
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• 2014

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

• Neonatal Medicine
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• 제15권1호
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• pp.89-93
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• 2008

염색체 12번 단완의 중복(첨가)는 매우 드문 질환이며 선천성 기형과 발육 장애를 동반하는 것으로 생각된다. 저자들이 경험한 증례는 다발성 이형성 특색과 선천성 기형을 가지고 태어난 남아로 핵형은 46,XY,add(12) (p13.3)이었다. 출생 시 자궁내 성장부진과 소두증, 소하악증, 구개열, 낮은 변형 귀와 같은 비정상 두개 안면소견을 보였으며, 소음경증, 양발의 rocker bottom 변형 소견을 보였다. 추후 확인한 검사에서 심장 및 신장기형, 신경성 난청 등의 다발성 기형을 보였으며 이후 경련성 질환과 발달 지연 소견으로 외래에서 추적 관찰중이다. 염색체 12번의 첨가에 관련된 증례를 경험하였기에 저자들은 문헌고찰과 함께 보고하는 바이다.

• Archives of Plastic Surgery
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• 제42권3호
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• pp.351-355
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• 2015

The absence or disfigurement of the umbilicus is both cosmetically and psychologically distressing to patients. The goal of aesthetically pleasing umbilical reconstruction is to create a neoumbilicus with sufficient depth and good morphology, with natural-looking superior hooding and minimal scarring. Although many reports have presented techniques for creating new and attractive umbilici, we developed a technique that we term the "four flaps technique" for creating a neoumbilicus in circumstances such as the congenital absence of the umbilicus or the lack of remaining umbilical tissue following the excision of a hypertrophic or scarred umbilicus. This method uses the neighboring tissue by simply elevating four flaps and can yield sufficient depth and an aesthetically pleasing shape with appropriate superior hooding.

• 대한영상의학회지
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• 제82권4호
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• pp.948-952
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• 2021

경동맥 무발생 및 좌외경동맥과 우경동맥 공통줄기기형의 동반 발생은 매우 드문 선천적 목혈관기형이다. 저자들은 위의 드문 기형들과 함께 흔한 대동맥궁 기형인 이상 우쇄골하동맥이 발생한 증례를 경험하였고 발생학적 기전과 임상적 중요성을 문헌 고찰을 통해 보고하고자 한다.