J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
{"title":"Limb Aplasias and Hypoplasias (Selected)","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0025","DOIUrl":null,"url":null,"abstract":"This chapter further discusses bone dysplasias and includes discussion on Al-Awadi Raas-Rothschild syndrome, Roberts/SC phocomelia syndrome, ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, split-hand/split-foot malformation with long bone deficiency (SHFLD), femoral-facial syndrome (FFS), femur-fibula-ulna syndrome, Poland syndrome, and Nager syndrome. Each discussion includes major radiographic features, major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"100 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/9780190626655.003.0025","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 further discusses bone dysplasias and includes discussion on Al-Awadi Raas-Rothschild syndrome, Roberts/SC phocomelia syndrome, ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, split-hand/split-foot malformation with long bone deficiency (SHFLD), femoral-facial syndrome (FFS), femur-fibula-ulna syndrome, Poland syndrome, and Nager syndrome. Each discussion includes major radiographic features, major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.