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Abnormal Skeletal Phenotypes [electronic resource] :From Simple Signs to Complex Diagnoses / by Alessandro Castriota-Scanderbeg, Bruno Dallapiccola.

by Castriota-Scanderbeg, Alessandro [author.]; Dallapiccola, Bruno [author.]; SpringerLink (Online service).
Material type: materialTypeLabelBookPublisher: Berlin, Heidelberg : Springer Berlin Heidelberg, 2005.Description: XIV, 962 p. online resource.ISBN: 9783540303619.Subject(s): Medicine | Human genetics | Radiology, Medical | Orthopedics | Pediatrics | Medicine & Public Health | Imaging / Radiology | Human Genetics | Pediatrics | OrthopedicsDDC classification: 616.0757 Online resources: Click here to access online
Contents:
I -- Skull -- Thorax -- Spine -- Pelvis -- Long Bones -- Hands -- Feet -- Joints -- Generalized Skeletal Abnormalities -- II -- Aarskog Syndrome -- Achondrogenesis, Type IB -- Achondrogenesis, Type II -- Achondroplasia -- Acrofacial Dysostosis, Nager Type -- Angelman Syndrome -- Apert Syndrome -- Asphyxiating Thoracic Dysplasia -- Atelosteogenesis -- Bardet-Biedl Syndrome -- Beckwith-Wiedemann Syndrome -- C Syndrome -- Campomelic Dysplasia -- Carpenter Syndrome -- Cerebro-costo-mandibular Syndrome -- CHARGE Association -- Chondrodysplasia Punctata, Conradi-Hünermann Type -- Chondrodysplasia Punctata, Rhizomelic Type -- Chondrodysplasia Punctata, Brachytelephalangic Type -- Chondroectodermal Dysplasia -- Chromosome 4p- Syndrome -- Chromosome Trisomy 13 Syndrome -- Chromosome Trisomy 18 Syndrome -- Chromosome Trisomy 21 Syndrome -- Cleidocranial Dysplasia -- Cockayne Syndrome -- Coffin-Lowry Syndrome -- Coffin-Siris Syndrome -- Cohen Syndrome -- Craniometaphyseal Dysplasia, Dominant Type -- Cri-du-chat Syndrome -- Crouzon Syndrome -- De Lange Syndrome -- Diaphyseal Dysplasia -- Diastrophic Dysplasia -- Dubowitz Syndrome -- Dyschondrosteosis -- Dysosteosclerosis -- Ectodermal Dysplasias -- Ehlers-Danlos Syndromes -- Enchondromatosis -- Exostoses, Multiple -- Fanconi Anemia -- Focal Dermal Hypoplasia Syndrome -- Freeman-Sheldon Syndrome -- Frontometaphyseal Dysplasia -- Goldenhar Syndrome -- Hallermann-Streiff Syndrome -- Holt-Oram Syndrome -- Kenny-Caffey Syndrome -- Klippel-Feil Anomaly -- Klippel-Trenaunay-Weber Syndrome -- Kniest Dysplasia -- Larsen Syndrome -- Marfan Syndrome -- McCune-Albright Syndrome -- Meckel Syndrome -- Melnick-Needles Syndrome -- Melorheostosis -- Mental Retardation, X-Linked, Associated with FRA Xq27.3 -- Mesomelic Dwarfism, Langer Type -- Mesomelic Dwarfism, Nievergelt Type -- Metatropic Dysplasia -- Multiple Epiphyseal Dysplasia -- Nail-Patella Syndrome -- Nevoid Basal Cell Carcinoma Syndrome -- Noonan Syndrome -- Opitz Syndrome -- Oro-facio-digital Syndrome, Type I -- Oro-facio-digital Syndrome, Type II -- Osteogenesis Imperfecta, Type I -- Osteogenesis Imperfecta, Type IIA -- Osteogenesis Imperfecta, Type IIB/III -- Osteopathia Striata with Cranial Sclerosis -- Osteopetrosis, Infantile Type -- Osteopetrosis, Adult Type -- Osteopoikilosis -- Oto-palato-digital Syndrome, Type I -- Oto-palato-digital Syndrome, Type II -- Pena-Shokeir Syndrome -- Pfeiffer Syndrome -- Poland Syndrome -- Prader-Willi Syndrome -- Progeria -- Pseudoachondroplasia -- Pyknodysostosis -- Roberts Syndrome -- Robin Sequence -- Robinow Syndrome -- Rubinstein-Taybi Syndrome -- Saethre-Chotzen Syndrome -- Seckel Syndrome -- Short Rib-Polydactyly Syndrome, Type I -- Short Rib-Polydactyly Syndrome, Type II -- Silver-Russell Syndrome -- Smith-Lemli-Opitz Syndrome -- Sotos Syndrome -- Spondyloepimetaphyseal Dysplasia, Irapa Type -- Spondyloepimetaphyseal Dysplasia, Strudwick Type -- Spondyloepiphyseal Dysplasia Congenita -- Spondyloepiphyseal Dysplasia Tarda -- Spondylometaphyseal Dysplasia, Kozlowski Type -- Stickler Syndrome -- Thanatophoric Dysplasia -- Thrombocytopenia-Absent Radius Syndrome -- Treacher-Collins Syndrome -- Tricho-rhino-phalangeal Syndrome, Type I -- Tricho-rhino-phalangeal Syndrome, Type II -- Turner Syndrome -- VATER Association -- Williams Syndrome.
In: Springer eBooksSummary: This book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. It is structured such that the reader can identify the radiographic changes and relate them to specific disease entities. The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias. The book is intended for radiologists, clinical and medical geneticists, and pediatricians. The material is divided into two parts. The first part is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their incidence, anatomic location, diagnostic relevance, pathogenesis, and pattern of inheritance, if applicable. The second part presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning symptoms, genetics, causes, radiographic appearance, and major differential diagnosis.
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I -- Skull -- Thorax -- Spine -- Pelvis -- Long Bones -- Hands -- Feet -- Joints -- Generalized Skeletal Abnormalities -- II -- Aarskog Syndrome -- Achondrogenesis, Type IB -- Achondrogenesis, Type II -- Achondroplasia -- Acrofacial Dysostosis, Nager Type -- Angelman Syndrome -- Apert Syndrome -- Asphyxiating Thoracic Dysplasia -- Atelosteogenesis -- Bardet-Biedl Syndrome -- Beckwith-Wiedemann Syndrome -- C Syndrome -- Campomelic Dysplasia -- Carpenter Syndrome -- Cerebro-costo-mandibular Syndrome -- CHARGE Association -- Chondrodysplasia Punctata, Conradi-Hünermann Type -- Chondrodysplasia Punctata, Rhizomelic Type -- Chondrodysplasia Punctata, Brachytelephalangic Type -- Chondroectodermal Dysplasia -- Chromosome 4p- Syndrome -- Chromosome Trisomy 13 Syndrome -- Chromosome Trisomy 18 Syndrome -- Chromosome Trisomy 21 Syndrome -- Cleidocranial Dysplasia -- Cockayne Syndrome -- Coffin-Lowry Syndrome -- Coffin-Siris Syndrome -- Cohen Syndrome -- Craniometaphyseal Dysplasia, Dominant Type -- Cri-du-chat Syndrome -- Crouzon Syndrome -- De Lange Syndrome -- Diaphyseal Dysplasia -- Diastrophic Dysplasia -- Dubowitz Syndrome -- Dyschondrosteosis -- Dysosteosclerosis -- Ectodermal Dysplasias -- Ehlers-Danlos Syndromes -- Enchondromatosis -- Exostoses, Multiple -- Fanconi Anemia -- Focal Dermal Hypoplasia Syndrome -- Freeman-Sheldon Syndrome -- Frontometaphyseal Dysplasia -- Goldenhar Syndrome -- Hallermann-Streiff Syndrome -- Holt-Oram Syndrome -- Kenny-Caffey Syndrome -- Klippel-Feil Anomaly -- Klippel-Trenaunay-Weber Syndrome -- Kniest Dysplasia -- Larsen Syndrome -- Marfan Syndrome -- McCune-Albright Syndrome -- Meckel Syndrome -- Melnick-Needles Syndrome -- Melorheostosis -- Mental Retardation, X-Linked, Associated with FRA Xq27.3 -- Mesomelic Dwarfism, Langer Type -- Mesomelic Dwarfism, Nievergelt Type -- Metatropic Dysplasia -- Multiple Epiphyseal Dysplasia -- Nail-Patella Syndrome -- Nevoid Basal Cell Carcinoma Syndrome -- Noonan Syndrome -- Opitz Syndrome -- Oro-facio-digital Syndrome, Type I -- Oro-facio-digital Syndrome, Type II -- Osteogenesis Imperfecta, Type I -- Osteogenesis Imperfecta, Type IIA -- Osteogenesis Imperfecta, Type IIB/III -- Osteopathia Striata with Cranial Sclerosis -- Osteopetrosis, Infantile Type -- Osteopetrosis, Adult Type -- Osteopoikilosis -- Oto-palato-digital Syndrome, Type I -- Oto-palato-digital Syndrome, Type II -- Pena-Shokeir Syndrome -- Pfeiffer Syndrome -- Poland Syndrome -- Prader-Willi Syndrome -- Progeria -- Pseudoachondroplasia -- Pyknodysostosis -- Roberts Syndrome -- Robin Sequence -- Robinow Syndrome -- Rubinstein-Taybi Syndrome -- Saethre-Chotzen Syndrome -- Seckel Syndrome -- Short Rib-Polydactyly Syndrome, Type I -- Short Rib-Polydactyly Syndrome, Type II -- Silver-Russell Syndrome -- Smith-Lemli-Opitz Syndrome -- Sotos Syndrome -- Spondyloepimetaphyseal Dysplasia, Irapa Type -- Spondyloepimetaphyseal Dysplasia, Strudwick Type -- Spondyloepiphyseal Dysplasia Congenita -- Spondyloepiphyseal Dysplasia Tarda -- Spondylometaphyseal Dysplasia, Kozlowski Type -- Stickler Syndrome -- Thanatophoric Dysplasia -- Thrombocytopenia-Absent Radius Syndrome -- Treacher-Collins Syndrome -- Tricho-rhino-phalangeal Syndrome, Type I -- Tricho-rhino-phalangeal Syndrome, Type II -- Turner Syndrome -- VATER Association -- Williams Syndrome.

This book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. It is structured such that the reader can identify the radiographic changes and relate them to specific disease entities. The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias. The book is intended for radiologists, clinical and medical geneticists, and pediatricians. The material is divided into two parts. The first part is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their incidence, anatomic location, diagnostic relevance, pathogenesis, and pattern of inheritance, if applicable. The second part presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning symptoms, genetics, causes, radiographic appearance, and major differential diagnosis.

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