• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.1-4
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• 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6 ), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• 대한안과학회지
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• 제59권12호
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• pp.1185-1189
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• 2018

목적: 위수정체안에서 외상에 의하여 발생한 단독 무홍채증 1예를 경험하였기에 이를 보고하고자 한다. 증례요약: 69세 여자 환자가 계단에서 넘어져 우안 수상 후 우안 안구통 및 시력저하를 주소로 응급실에 내원하였다. 5년 전 본원에서 우안 이측 2.2 mm 투명각막절개창을 통해 백내장수술을 받은 환자였다. 백내장 창상 부위를 통하여 전체 홍채해리가 탈출되었으나 창상이 벌어지거나 후낭, 인공수정체의 손상은 없었다. 결론: 저자들은 국내에서 보고된 바 없는 증례인 위수정체안에서 외상에 의하여 발생한 단독 무홍채증 1예를 경험하였기에 이를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제51권12호
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• pp.1355-1358
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• 2008

WAGR 증후군은 윌름즈 종양, 무홍채증, 비뇨 생식기계 기형, 정신지체 증상을 동반하는 증후군이다. 이는 윌름즈 종양 유전자인 WT1와 무홍채증 유전자 PAX6를 포함하는 11번 염색체 단완의 13째 부분의 결실에 의해 유발된다. 이에 저자들은 태어나서부터 양측성 무홍채증을 가졌고 복부팽만과 정신지체를 주소로 내원한 2세 여아에서 염색체 검사에서 11p11.2-13의 결실을 보인 국내 최초의 WAGR 증후군을 보고하는 바이다. 양측성 윌름즈 종양은 항암제와 수술로 성공적으로 치료하였고, 환아는 항암치료 종료 후 19개월째 정상적인 신기능을 보이며 생존하고 있다.

• Journal of Chest Surgery
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• 제19권2호
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• pp.265-272
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• 1986

We operated on 199 patients of VSD from 1976 to April l986. Among them, patients of VSD whose medical records were available were analyzed clinically. Operation on patients of VSD occupied 23.9% of total open heart surgery [832 cases] during those days. Of the 164 patients, 93 patients were male [56.7%]. 71 patients were female [43.3%]. Their age ranged from 6 months to 28 years and the mean age was 9.5 year and 82.2% of the patients were between 2 and 15 year of age. Of the patients, body weight below 10Kg were 19 cases. The most common complaints were frequent URI and DOE. On Kirklin`s anatomical classification, type II defect was most common [60.1%], type I [38.4%], combined type I+II, type III, combined type II+Ill and combined type II+IV in orders. Associated anomaly was found in 66 patients [42.5%>]. Pulmonary stenosis was most commonly associated cardiac anomaly [8.4%] and aortic insufficiency [7.1%], ASD, Lt. SVC and PDA in orders. There were extracardiac anomalies such as polydactyly, cleft palate, hypospadia and congenital aniridia, etc. Relationship between ventricular hypertrophy and defect size and cardiac cath. data was analyzed. The overall mortality was 7.0% [14 cases] and complication rate was 22.5% [35 cases].