{"title":"一名巴西男孩的德尔曼综合征","authors":"M. Guion-Almeida, N. Kokitsu-Nakata","doi":"10.1590/S0100-84551996000400017","DOIUrl":null,"url":null,"abstract":"We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.","PeriodicalId":340356,"journal":{"name":"Brazilian Journal of Genetics","volume":"29 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Delleman syndrome in a Brazilian boy\",\"authors\":\"M. Guion-Almeida, N. Kokitsu-Nakata\",\"doi\":\"10.1590/S0100-84551996000400017\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.\",\"PeriodicalId\":340356,\"journal\":{\"name\":\"Brazilian Journal of Genetics\",\"volume\":\"29 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Brazilian Journal of Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1590/S0100-84551996000400017\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brazilian Journal of Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/S0100-84551996000400017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia.