Author | Horan, Frank. author |
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Title | Orthopaedic Problems in Inherited Skeletal Disorders [electronic resource] / by Frank Horan, Peter Beighton |
Imprint | London : Springer London, 1982 |
Connect to | http://dx.doi.org/10.1007/978-1-4471-1326-3 |
Descript | XVI, 144 p. online resource |
1. Genetic Principles -- 1.1 Basic Genetics -- 1.2 Chromosomal Disorders -- 1.3 Gene Disorders -- 2. The Investigation and General Management of Bone Dysplasias -- 2.1 Assessment of the Patient -- 2.2 Other Investigations -- 2.3 Antenatal Diagnosis -- 2.4 The General Management of Bone Dysplasias -- 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 -- 4.3 Dysplasia Epiphysealis Hemimelica -- 5. Disorders of Epiphyses and Metaphyses with Predominant Metaphyseal Involvement -- 5.1 Achondroplasia -- 5.2 Hypochondroplasia -- 5.3 Metaphyseal Chondrodysplasia -- 5.4 Vitamin D-Resistant Rickets -- 6. Disorders of the Epiphyses and Metaphyses with Major Vertebral Involvement -- 6.1 Spondyloepiphyseal Dysplasia -- 6.2 Pseudoachondroplasia -- 6.3 Diastrophic Dysplasia -- 6.4 Metatropic Dysplasia -- 6.5 Spondylometaphyseal Dysplasia -- 6.6 Other Disorders -- 7. Generalised Decrease in Bone Density -- 7.1 Osteogenesis Imperfecta -- 7.2 Idiopathic Osteolysis -- 8. Increased Bone Density -- 8.1 Osteopetrosis -- 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 -- 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 -- 12.3 Digital Anomalies -- 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 -- 15.11 Mesomelic Dysplasia