Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0023
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses craniosynostosis syndromes and includes discussion on Apert syndrome, Pfeiffer syndrome, Antley-Bixler syndrome, Saethre-Chotzen syndrome, Baller-Gerold syndrome, Carpenter syndrome, Muenke syndrome, and bent bone dysplasia-FGFR2 type. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Craniosynostosis Syndromes","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0023","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0023","url":null,"abstract":"This chapter discusses craniosynostosis syndromes and includes discussion on Apert syndrome, Pfeiffer syndrome, Antley-Bixler syndrome, Saethre-Chotzen syndrome, Baller-Gerold syndrome, Carpenter syndrome, Muenke syndrome, and bent bone dysplasia-FGFR2 type. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"41 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129140582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/MED/9780190626655.003.0001
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
{"title":"Achondroplasia and Related FGFR3 Conditions","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0001","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0001","url":null,"abstract":"This chapter discusses achondroplasia and related FGFR3 conditions and explores thanatophoric dysplasia (Types 1 and 2), achondroplasia, hypochondroplasia, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"51 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120995229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/MED/9780190626655.003.0005
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses mucopolysaccharidoses and oligosaccharidoses and explores dysostosis multiplex, mucopolysaccharidosis IV, mucolipidosis II, and mucolipidosis III. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Mucopolysaccharidoses and Oligosaccharidoses","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0005","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0005","url":null,"abstract":"This chapter discusses mucopolysaccharidoses and oligosaccharidoses and explores dysostosis multiplex, mucopolysaccharidosis IV, mucolipidosis II, and mucolipidosis III. 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":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130493570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0009
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Filamin-Associated Dysplasias/Dysostoses and Related Disorders","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0009","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0009","url":null,"abstract":"This chapter discusses filamin-associated dysplasias/dysostoses and related disorders and includes discussion on otopalatodigital syndrome type 1, otopalatodigital syndrome type II, Melnick-Needles osteodysplasty, frontometaphyseal dysplasia, boomerang dysplasia/atelosteogenesis type I, atelosteogenesis type III, Larsen syndrome (autosomal dominant), spondylocarpotarsal synostosis syndrome, and Frank-ter Haar syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123817411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0024
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses spondylocostal dysostoses. The discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
本章讨论脊椎骨失稳。讨论内容包括主要影像学特征、主要临床表现、遗传学、主要鉴别诊断和参考书目。
{"title":"Spondylocostal Dysostoses","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0024","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0024","url":null,"abstract":"This chapter discusses spondylocostal dysostoses. The discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"15 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115417937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/MED/9780190626655.003.0008
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Diastrophic Dysplasia and Related Conditions, and Dysplasias with Joint Dislocations","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0008","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0008","url":null,"abstract":"This chapter further discusses bone dysplasias and includes discussion on achondrogenesis (type IB), atelosteogenesis type 2, diastrophic dysplasia, multiple epiphyseal dysplasia (recessive type [rMED]), Desbuquois dysplasia, chondrodysplasia with joint dislocations (IMPAD1/gPAPP type), Catel-Manzke syndrome, chondrodysplasia with congenital joint dislocations (CHST3-type), temtamy preaxial brachydactyly syndrome (TPBS), B4GALT7 deficiency, B3GAT3 deficiency, XYLT1 deficiency, spondyloepimetaphyseal dysplasia with joint laxity Beighton type, spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type), pseudodiastrophic dysplasia, and Steel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130444105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0018
Jürgen W. Spranger, Paula W. Brill, C. Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger
This chapter further discusses bone dysplasias, and includes discussion on familial expansile osteolysis, hyaline fibromatosis, mandibuloacral dysplasia, progeria, Winchester-Torg syndrome, Hajdu-Cheney osteolysis, and multicentric carpal-tarsal osteolysis. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Osteolyses","authors":"Jürgen W. Spranger, Paula W. Brill, C. Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger","doi":"10.1093/med/9780190626655.003.0018","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0018","url":null,"abstract":"This chapter further discusses bone dysplasias, and includes discussion on familial expansile osteolysis, hyaline fibromatosis, mandibuloacral dysplasia, progeria, Winchester-Torg syndrome, Hajdu-Cheney osteolysis, and multicentric carpal-tarsal osteolysis. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125777526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0025
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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.
{"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":"https://doi.org/10.1093/med/9780190626655.003.0025","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":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121844253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0026
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter disorders with defective joint formation and includes discussion on multiple synostoses syndrome and Liebenberg syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Disorders with Defective Joint Formation","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0026","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0026","url":null,"abstract":"This chapter disorders with defective joint formation and includes discussion on multiple synostoses syndrome and Liebenberg syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124467026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0006
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses metatropic dysplasia and other TRPV4-related skeletal dysplasias, including spondyloepiphyseal dysplasia (Maroteaux type), spondylometaphyseal dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0006","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0006","url":null,"abstract":"This chapter discusses metatropic dysplasia and other TRPV4-related skeletal dysplasias, including spondyloepiphyseal dysplasia (Maroteaux type), spondylometaphyseal dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"130 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124506072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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