Pub Date : 2018-10-01DOI: 10.1093/MED/9780190626655.003.0010
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Punctate Calcification Group","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0010","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0010","url":null,"abstract":"This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"53 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":"114716767","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/9780190626655.003.0014
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Osteogenesis Imperfecta and Other Disorders with Decreased Bone Density","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0014","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0014","url":null,"abstract":"This chapter discusses osteogenesis imperfecta and other disorders with decreased bone density and includes discussion on osteogenesis imperfecta itself, osteogenesis imperfecta (type I), osteogenesis imperfecta (type IIA), osteogenesis imperfecta (type IIC), osteogenesis imperfecta (type III/IIB), osteogenesis imperfecta (type IV), osteogenesis imperfecta (type V), idiopathic juvenile osteoporosis, Bruck syndrome, Cole-Carpenter syndrome, Stüve-Wiedemann syndrome, osteoporosis-pseudoglioma syndrome, spondyloocular dysplasia, geroderma osteodysplasticum, calvarial doughnut lesions-osteoporosis syndrome, and gnathodiaphyseal dysplasia. 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":"121706849","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/9780190626655.003.0020
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Polytopic Dysostoses","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0020","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0020","url":null,"abstract":"This chapter further discusses bone dysplasias and includes discussion on campomelic dysplasia, cousin dysplasia, spondylo-megaepiphyseal-metaphyseal dysplasia, cleidocranial dysplasia, Yunis-Varon syndrome, CDAGS, nail-patella syndrome, ischio-pubic-patellar dysplasia, ischiospinal dysostosis, and cerebro-costo-mandibular syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"34 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":"132322491","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/9780190626655.003.0017
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses dense bone dysplasias with meta-diaphyseal modeling defects and includes discussion on Blomstrand chondrodysplasia, infantile cortical hyperostosis, dysplastic cortical hyperostosis type Kozlowski-Tsuruta, three conditions presenting in the pre- or perinatal period, osteoectasia with hyperphosphatasia, endosteal hyperostosis (Van Buchem type), Camurati-Engelmann disease, Ghosal hematodiaphyseal dysplasia, Lenz-Majewski hyperostotic dysplasia, hypertrophic osteoarthropathy (autosomal recessive), pachydermoperiostosis (autosomal dominant), sclerosteo-cerebellar syndrome, craniodiaphyseal dysplasia, craniometaphyseal dysplasia, craniometadiaphyseal dysplasia wormian bone type, Pyle disease, metaphyseal dysplasia (Braun-Tinschert type), oculodentoosseo dysplasia, tricho-dento-osseous dysplasia, and diaphyseal medullary stenosis with bone malignancy. Each discussion includes major radiographic features, major clinical findings, genetics, discussions on the course of the disorder, appropriate investigations and potential treatment, major differential diagnoses, and a bibliography.
{"title":"Dense Bone Dysplasias with Meta-Diaphyseal Modeling Defects","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0017","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0017","url":null,"abstract":"This chapter discusses dense bone dysplasias with meta-diaphyseal modeling defects and includes discussion on Blomstrand chondrodysplasia, infantile cortical hyperostosis, dysplastic cortical hyperostosis type Kozlowski-Tsuruta, three conditions presenting in the pre- or perinatal period, osteoectasia with hyperphosphatasia, endosteal hyperostosis (Van Buchem type), Camurati-Engelmann disease, Ghosal hematodiaphyseal dysplasia, Lenz-Majewski hyperostotic dysplasia, hypertrophic osteoarthropathy (autosomal recessive), pachydermoperiostosis (autosomal dominant), sclerosteo-cerebellar syndrome, craniodiaphyseal dysplasia, craniometaphyseal dysplasia, craniometadiaphyseal dysplasia wormian bone type, Pyle disease, metaphyseal dysplasia (Braun-Tinschert type), oculodentoosseo dysplasia, tricho-dento-osseous dysplasia, and diaphyseal medullary stenosis with bone malignancy. Each discussion includes major radiographic features, major clinical findings, genetics, discussions on the course of the disorder, appropriate investigations and potential treatment, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"41 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":"116427016","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/9780190626655.003.0019
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses disorders caused by disorganization of skeletal constituents and includes discussion on fibrous dysplasia, cherubism, progressive osseous heteroplasia, multiple cartilaginous exostoses, osteoglophonic dysplasia, fibrodysplasia ossificans progressiva, enchondromatosis, metaphyseal chondromatosis with 2-hydroxyglutaric acidura, genochondromatosis, and metachondromatosis. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Disorders Caused by Disorganization of Skeletal Constituents","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0019","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0019","url":null,"abstract":"This chapter discusses disorders caused by disorganization of skeletal constituents and includes discussion on fibrous dysplasia, cherubism, progressive osseous heteroplasia, multiple cartilaginous exostoses, osteoglophonic dysplasia, fibrodysplasia ossificans progressiva, enchondromatosis, metaphyseal chondromatosis with 2-hydroxyglutaric acidura, genochondromatosis, and metachondromatosis. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"80 10","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133522758","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/9780190626655.003.0022
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses overgrowth/accelerated skeletal maturation syndromes and includes discussion on Marshall-Smith syndrome, Moreno-Nishimura-Schmidt overgrowth syndrome, Weaver syndrome, and CNP-overexpression overgrowth syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Overgrowth/Accelerated Skeletal Maturation Syndromes (Selected)","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0022","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0022","url":null,"abstract":"This chapter discusses overgrowth/accelerated skeletal maturation syndromes and includes discussion on Marshall-Smith syndrome, Moreno-Nishimura-Schmidt overgrowth syndrome, Weaver syndrome, and CNP-overexpression overgrowth syndrome. 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":"134102567","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/9780190626655.003.0015
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter further discusses bone dysplasias and includes discussion on hypophosphatasia, neonatal severe primary hyperparathyroidism, and hereditary rickets. Each discussion includes major radiographic features, major clinical findings, major laboratory findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Dysorders with Defective Mineralization","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0015","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0015","url":null,"abstract":"This chapter further discusses bone dysplasias and includes discussion on hypophosphatasia, neonatal severe primary hyperparathyroidism, and hereditary rickets. Each discussion includes major radiographic features, major clinical findings, major laboratory findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"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":"130260987","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/9780190626655.003.0004
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter further discusses bone dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic dysplasia (Torrance type), spondyloepiphyseal dysplasia congenita, spondylo-epi-metaphyseal dysplasia (Strudwick type), Kniest dysplasia, spondyloepiphyseal dysplasia (Stanescu type), spondyloperipheral dysplasia, spondyloepiphyseal dysplasia with short metatarsals, Stickler dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
{"title":"Spondyloepiphyseal Dysplasia Congenita and Related Type 2/Type 11 Collagen Disorders","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0004","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0004","url":null,"abstract":"This chapter further discusses bone dysplasias, and explores achondrogenesis II (hypochondrogenesis), platyspondylic dysplasia (Torrance type), spondyloepiphyseal dysplasia congenita, spondylo-epi-metaphyseal dysplasia (Strudwick type), Kniest dysplasia, spondyloepiphyseal dysplasia (Stanescu type), spondyloperipheral dysplasia, spondyloepiphyseal dysplasia with short metatarsals, Stickler dysplasia, fibrochondrogenesis, and oto-spondylo-megaepiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"28 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":"122440385","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/9780190626655.003.0011
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses short-rib (± polydactyly) dysplasias and related disorders and includes discussion on asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, short rib ±polydactyly syndrome (Saldino-Noonan and Verma-Naumoff types), short rib (±polydactyly) syndrome (Majewski type), short rib ±polydactyly syndrome (Beemer-Langer type), cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
本章讨论短肋(±多指畸形)发育不良及相关疾病，包括对窒息性胸椎发育不良、Ellis van Creveld综合征、短肋±多指畸形综合征(Saldino-Noonan型和Verma-Naumoff型)、短肋(±多指畸形)综合征(Majewski型)、短肋±多指畸形综合征(bemer - langer型)、颅外胚层发育不良、Mainzer-Saldino综合征和轴型椎体干骺端发育不良的讨论。每个讨论包括主要的放射学特征，主要的临床发现，遗传学，主要的鉴别诊断和参考书目。
{"title":"Short-Rib (±Polydactyly) Dysplasias","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0011","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0011","url":null,"abstract":"This chapter discusses short-rib (± polydactyly) dysplasias and related disorders and includes discussion on asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, short rib ±polydactyly syndrome (Saldino-Noonan and Verma-Naumoff types), short rib (±polydactyly) syndrome (Majewski type), short rib ±polydactyly syndrome (Beemer-Langer type), cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each 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":"121345489","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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