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Orthopaedic Problems in Inherited Skeletal Disorders

Author: Frank Horan; Peter Beighton
Publisher: London : Springer London, 1982.
Edition/Format:   eBook : Document : EnglishView all editions and formats
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Genre/Form: Electronic books
Additional Physical Format: Printed edition
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Frank Horan; Peter Beighton
ISBN: 9781447113287 1447113284 9781447113263 1447113268
OCLC Number: 853265561
Description: 1 online resource (volumes)
Contents: 1. Genetic Principles.- 1.1 Basic Genetics.- 1.2 Chromosomal Disorders.- 1.3 Gene Disorders.- 1.3.1 Autosomal Dominant.- 1.3.2 Autosomal Recessive.- 1.3.3 X-Linked Inheritance.- 1.3.4 Polygenic Inheritance.- 2. The Investigation and General Management of Bone Dysplasias.- 2.1 Assessment of the Patient.- 2.1.1 Clinical Examination.- 2.1.2 Genealogical Studies.- 2.1.3 Radiological Assessment.- 2.1.4 Biochemical Investigation.- 2.2 Other Investigations.- 2.2.1 Radio-isotope Scanning of Bone.- 2.2.2 Computerised Tomography.- 2.2.3 Histological Studies.- 2.2.4 Histochemical Studies.- 2.3 Antenatal Diagnosis.- 2.3.1 Amniocentesis.- 2.3.2 Foetoscopy.- 2.3.3 Antenatal Radiography.- 2.3.4 Ultrasonography.- 2.3.5 General Considerations.- 2.4 The General Management of Bone Dysplasias.- 2.4.1 Psycho-social Problems.- 2.4.2 General Considerations.- 2.4.3 Dwarfism.- 2.4.4 The Lower Limbs.- 2.4.5 Genetic Counselling.- 3. Nomenclature and Terminology.- 3.1 Introduction.- 3.2 Historical Perspectives.- 3.3 Nomenclature.- 3.4 Classification.- 3.5 Terminology.- 3.6 Current Trends.- 4. Disorders of Epiphyses and Metaphyses with Predominant Epiphyseal Involvement.- 4.1 Multiple Epiphyseal Dysplasia.- 4.2 Chondrodysplasia Punctata.- 4.2.1 Conradi-Hunerman Type.- 4.2.2 Rhizomelic Form.- 4.3 Dysplasia Epiphysealis Hemimelica.- 5. Disorders of Epiphyses and Metaphyses with Predominant Metaphyseal Involvement.- 5.1 Achondroplasia.- 5.2 Hypochondroplasia.- 5.3 Metaphyseal Chondrodysplasia.- 5.3.1 Schmid Type.- 5.3.2 Jansen Type.- 5.3.3 McKusick Type.- 5.3.4 Other Forms.- 5.4 Vitamin D-Resistant Rickets.- 6. Disorders of the Epiphyses and Metaphyses with Major Vertebral Involvement.- 6.1 Spondyloepiphyseal Dysplasia.- 6.1.1 Spondyloepiphyseal Dysplasia Congenita.- 6.1.2 Spondyloepiphyseal Dysplasia Tarda.- 6.2 Pseudoachondroplasia.- 6.3 Diastrophic Dysplasia.- 6.4 Metatropic Dysplasia.- 6.5 Spondylometaphyseal Dysplasia.- 6.6 Other Disorders.- 6.6.1 Parastremmatic Dysplasia.- 6.6.2 Dyggve-Melchior-Clausen Syndrome.- 6.6.3 Kniest Dysplasia.- 7. Generalised Decrease in Bone Density.- 7.1 Osteogenesis Imperfecta.- 7.1.1 Osteogenesis Imperfecta Congenita.- 7.1.2 Osteogenesis Imperfecta Tarda.- 7.2 Idiopathic Osteolysis.- 8. Increased Bone Density.- 8.1 Osteopetrosis.- 8.1.1 Autosomal Recessive Form.- 8.1.2 Autosomal Dominant Form.- 8.2 Pycnodysostosis.- 9. Craniotubular Dysplasias and Hyperostoses.- 9.1 Craniometaphyseal Dysplasia.- 9.2 Metaphyseal Dysplasia (Pyle Disease).- 9.3 Diaphyseal Dysplasia (Camurati-Engelmann).- 9.4 Infantile Cortical Hyperostosis.- 9.5 Other Craniotubular Disorders.- 9.5.1 Endosteal Hyperostosis.- 9.5.2 Sclerosteosis.- 9.5.3 Frontometaphyseal Dysplasia.- 9.5.4 Craniodiaphyseal Dysplasia.- 10. Cranio-Facial Abnormalities.- 10.1 Cranio-Facial Dysostosis (Crouzon Syndrome).- 10.2 Acrocephalosyndactyly (Apert Syndrome).- 10.3 Acrocephalopolysyndactyly (Carpenter Syndrome).- 10.4 Mandibulofacial Dysostosis (Treacher Collins Syndrome).- 11. Vertebral Anomalies.- 11.1 Klippel-Feil Syndrome.- 11.2 Costovertebral Segmentation Anomalies.- 11.3 Sprengel Deformity.- 12. Limb and Digital Anomalies.- 12.1 Limb Reduction.- 12.2 Synostosis Syndromes.- 12.2.1 Radioulnar Synostosis.- 12.2.2 Humero-radial Synostosis.- 12.2.3 Tarsal Synostosis.- 12.3 Digital Anomalies.- 12.3.1 Polydactyly.- 12.3.2 Syndactyly.- 12.3.3 Symphalangism.- 12.3.4 Brachydactyly.- 12.3.5 Ectrodactyly.- 13. Mucopolysaccharidoses and Other Storage Disorders.- 13.1 MPS I-H(Hurler Syndrome).- 13.2 MPS II(Hunter Syndrome).- 13.3 MPS IV(Morquio Syndrome).- 13.4 Gaucher Disease.- 14. Abnormalities of Cartilage and Fibrous Tissue.- 14.1 Diaphyseal Aclasia.- 14.2 Enchondromatosis (Ollier Disease).- 14.3 Neurofibromatosis (Von Recklinghausen Disease).- 14.4 Fibrous Dysplasia.- 14.5 Fibrodysplasia Ossificans Progressiva.- 15. Miscellaneous Disorders.- 15.1 Osteopoikilosis.- 15.2 Melorheostosis.- 15.3 Osteopathia Striata.- 15.4 Cleidocranial Dysplasia.- 15.5 Marfan Syndrome.- 15.6 Homocystinuria.- 15.7 Larsen Syndrome.- 15.8 Chondro-Ectodermal Dysplasia (Ellis-Van Creveld Syndrome).- 15.9 Schwartz Syndrome.- 15.10 Dyschondrosteosis.- 15.10.1 The Madelung Deformity.- 15.11 Mesomelic Dysplasia.
Responsibility: by Frank Horan, Peter Beighton.
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