S. Tanrıverdi, O. Koroglu, O. Cogulu, M. Yalaz, F. Ozkinay, N. Kültürsay
{"title":"产前诊断为心脏病和右肾发育不全的CHARGE综合征1例。","authors":"S. Tanrıverdi, O. Koroglu, O. Cogulu, M. Yalaz, F. Ozkinay, N. Kültürsay","doi":"10.5222/BUCHD.2013.211","DOIUrl":null,"url":null,"abstract":"CHARGE syndrome is a syndrome with coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia. Congenital heart defects occur in 75-80% of patients. Tetralogy of Fallot is the commonest heart defect. We report a 15 day old newborn antenatally diagnosed and referred to our hospital for cardiopathy but postnatally presented with bilateral iris and choroid coloboma, left microphthalmos, micropenis, cryptorchidism, right renal agenesis, left vesicoureteral reflux and tetralogy of Fallot and diagnosed as CHARGE syndrome.","PeriodicalId":428200,"journal":{"name":"Journal of Dr. Behcet Uz Children's Hospital","volume":"31 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2013-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case with CHARGE syndrome with antenatal diagnosis of cardiopathy and right renal agenesis.\",\"authors\":\"S. Tanrıverdi, O. Koroglu, O. Cogulu, M. Yalaz, F. Ozkinay, N. Kültürsay\",\"doi\":\"10.5222/BUCHD.2013.211\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"CHARGE syndrome is a syndrome with coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia. Congenital heart defects occur in 75-80% of patients. Tetralogy of Fallot is the commonest heart defect. We report a 15 day old newborn antenatally diagnosed and referred to our hospital for cardiopathy but postnatally presented with bilateral iris and choroid coloboma, left microphthalmos, micropenis, cryptorchidism, right renal agenesis, left vesicoureteral reflux and tetralogy of Fallot and diagnosed as CHARGE syndrome.\",\"PeriodicalId\":428200,\"journal\":{\"name\":\"Journal of Dr. Behcet Uz Children's Hospital\",\"volume\":\"31 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2013-12-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Dr. Behcet Uz Children's Hospital\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5222/BUCHD.2013.211\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Dr. Behcet Uz Children's Hospital","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5222/BUCHD.2013.211","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A case with CHARGE syndrome with antenatal diagnosis of cardiopathy and right renal agenesis.
CHARGE syndrome is a syndrome with coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia. Congenital heart defects occur in 75-80% of patients. Tetralogy of Fallot is the commonest heart defect. We report a 15 day old newborn antenatally diagnosed and referred to our hospital for cardiopathy but postnatally presented with bilateral iris and choroid coloboma, left microphthalmos, micropenis, cryptorchidism, right renal agenesis, left vesicoureteral reflux and tetralogy of Fallot and diagnosed as CHARGE syndrome.
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