J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
{"title":"Rhizo-Mesomelic Dysplasias","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0012","DOIUrl":null,"url":null,"abstract":"This chapter discusses rhizo-mesomelic dysplasias and related disorders and includes discussion on omodysplasia (autosomal recessive), Robinow syndrome, dyschondrosteosis, mesomelic dysplasia (Langer type), mesomelic dysplasia (Kantaputra type), mesomelic dysplasia (Werner type), mesomelic dysplasia (Reardon-Kozlowski type), mesomelic dysplasia (Nievergelt-Savarirayan type), and mesomelic dysplasia with acral synostoses. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"2 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bone Dysplasias","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/med/9780190626655.003.0012","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
This chapter discusses rhizo-mesomelic dysplasias and related disorders and includes discussion on omodysplasia (autosomal recessive), Robinow syndrome, dyschondrosteosis, mesomelic dysplasia (Langer type), mesomelic dysplasia (Kantaputra type), mesomelic dysplasia (Werner type), mesomelic dysplasia (Reardon-Kozlowski type), mesomelic dysplasia (Nievergelt-Savarirayan type), and mesomelic dysplasia with acral synostoses. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.