J. Leisti, I. Kaitila, R. Lachman, M. Asch, D. Rimoin
{"title":"骨硬化症。","authors":"J. Leisti, I. Kaitila, R. Lachman, M. Asch, D. Rimoin","doi":"10.32388/4bx8mb","DOIUrl":null,"url":null,"abstract":"A 5 1/2 year old boy presented with delayed development and loss of vision. A skeletal survey showed osteosclerosis consistent with dysosteosclerosis. Some unusual features of dysosteosclerosis are discussed.","PeriodicalId":72417,"journal":{"name":"Birth defects original article series","volume":"11 6 1","pages":"349-51"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"20","resultStr":"{\"title\":\"Dysosteosclerosis.\",\"authors\":\"J. Leisti, I. Kaitila, R. Lachman, M. Asch, D. Rimoin\",\"doi\":\"10.32388/4bx8mb\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A 5 1/2 year old boy presented with delayed development and loss of vision. A skeletal survey showed osteosclerosis consistent with dysosteosclerosis. Some unusual features of dysosteosclerosis are discussed.\",\"PeriodicalId\":72417,\"journal\":{\"name\":\"Birth defects original article series\",\"volume\":\"11 6 1\",\"pages\":\"349-51\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"20\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Birth defects original article series\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32388/4bx8mb\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Birth defects original article series","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32388/4bx8mb","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A 5 1/2 year old boy presented with delayed development and loss of vision. A skeletal survey showed osteosclerosis consistent with dysosteosclerosis. Some unusual features of dysosteosclerosis are discussed.