Pub Date : 2018-10-01DOI: 10.1093/med/9780190626655.003.0021
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter further discusses bone dysplasias and includes discussion on 3M syndrome, Kenny-Caffey syndrome, osteocraniostenosis, microcephalic osteodysplastic primordial dwarfism (types 1 and 3), microcephalic osteodysplastic primordial dwarfism (type 2), and IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Disorders with Prenatal Short Stature and Slender Bones","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0021","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0021","url":null,"abstract":"This chapter further discusses bone dysplasias and includes discussion on 3M syndrome, Kenny-Caffey syndrome, osteocraniostenosis, microcephalic osteodysplastic primordial dwarfism (types 1 and 3), microcephalic osteodysplastic primordial dwarfism (type 2), and IMAGE (intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"30 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":"123818922","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/9780190626655.003.0016
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses dense bone dysplasias with normal bone shape and includes discussion on osteopetroses, Raine dysplasia, infantile osteopetrosis, osteopetrosis (intermediate), osteopetrosis (late onset forms), osteopetrosis with renal tubular acidosis, dysosteosclerosis, pyknodysostosis, osteomesopyknosis, osteopetrosis (lymphedema, ectodermal dysplasia, immune defect), osteopoikilosis, melorheostosis, and osteopathia striata with cranial sclerosis. Osteoclasts play important roles during bone growth and in maintaining bone health and bone homeostasis. Dysfunction or lack of osteoclasts is under the control and interaction of many genes and leads to increased bone mass and osteopetrosis phenotypes. Increased bone density in osteopetrosis is also accompanied by some loss of modelling resulting in widening of the affected sclerotic transverse striations. The intermittent nature of the sclerosis results in areas of normal bone density and normal modelling in between the sclerotic bands. The mechanisms related to the apparent “switching off” of the abnormal osteoclastic activity has not yet been elucidated. Most of the conditions in this section are related to a failure of osteoclast function. Each condition discussed includes major radiographic features, major clinical findings, genetics, major differential diagnoses, progress, complications and potential therapies, and a bibliography.
{"title":"Dense Bone Dysplasias with Normal Bone Shape","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0016","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0016","url":null,"abstract":"This chapter discusses dense bone dysplasias with normal bone shape and includes discussion on osteopetroses, Raine dysplasia, infantile osteopetrosis, osteopetrosis (intermediate), osteopetrosis (late onset forms), osteopetrosis with renal tubular acidosis, dysosteosclerosis, pyknodysostosis, osteomesopyknosis, osteopetrosis (lymphedema, ectodermal dysplasia, immune defect), osteopoikilosis, melorheostosis, and osteopathia striata with cranial sclerosis. Osteoclasts play important roles during bone growth and in maintaining bone health and bone homeostasis. Dysfunction or lack of osteoclasts is under the control and interaction of many genes and leads to increased bone mass and osteopetrosis phenotypes. Increased bone density in osteopetrosis is also accompanied by some loss of modelling resulting in widening of the affected sclerotic transverse striations. The intermittent nature of the sclerosis results in areas of normal bone density and normal modelling in between the sclerotic bands. The mechanisms related to the apparent “switching off” of the abnormal osteoclastic activity has not yet been elucidated. Most of the conditions in this section are related to a failure of osteoclast function. Each condition discussed includes major radiographic features, major clinical findings, genetics, major differential diagnoses, progress, complications and potential therapies, 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":"125472110","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/9780190626655.003.0003
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
{"title":"Dysplasias with Predominant Metaphyseal Involvement","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0003","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0003","url":null,"abstract":"This chapter discusses metaphyseal eysplasias and explores metaphyseal chondrodysplasia (Schmid type), cartilage-hair hypoplasia, metaphyseal dysplasia (Spahr type), metaphyseal anadysplasia, Shwachman syndrome, metaphyseal chondrodysplasia (Jansen type), Eiken dysplasia, and chronic infantile neurologic cutaneous and articular syndrome (CINCA). Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.","PeriodicalId":415380,"journal":{"name":"Bone Dysplasias","volume":"828 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":"117056410","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/9780190626655.003.0013
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.
{"title":"Acromesomelic and Acromelic Dysplasias/Dysostoses","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/med/9780190626655.003.0013","DOIUrl":"https://doi.org/10.1093/med/9780190626655.003.0013","url":null,"abstract":"This chapter discusses acromesomelic and acromelic dysplasias/dysostoses and related disorders and includes discussion on acromesomelic dysplasias (Maroteaux type), Grebe dysplasia, brachydactyly A1, brachydactyly B, brachydactyly C, brachydactyly D, brachydactyly E, brachydactyly (Christian type), tricho-rhino-phalangeal dysplasia (type 1), tricho-rhino-phalangeal dysplasia (type 2), acrocapitofemoral dysplasia, Albright hereditary osteodystrophy, acrodysostosis, geleophysic dysplasia, acromicric dysplasia, Myhre syndrome, and SOFT syndrome. Each discussion includes major radiographic features, major clinical 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":"130726101","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/9780190626655.003.0002
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
This chapter discusses pseudoachondroplasia and dominant epiphyseal dysplasia and explores pseudoachondroplasia, and multiple epiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
{"title":"Pseudoachondroplasia and Dominant Epiphyseal Dysplasia","authors":"J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger","doi":"10.1093/MED/9780190626655.003.0002","DOIUrl":"https://doi.org/10.1093/MED/9780190626655.003.0002","url":null,"abstract":"This chapter discusses pseudoachondroplasia and dominant epiphyseal dysplasia and explores pseudoachondroplasia, and multiple epiphyseal dysplasia. Each discussion includes major clinical findings, major radiographic features, 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":"114318797","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/9780190626655.003.0012
J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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.
{"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":"https://doi.org/10.1093/med/9780190626655.003.0012","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":0.0,"publicationDate":"2018-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115505349","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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