Description
Springer Orthopaedic Problems in Inherited Skeletal Disorders 1st Editon 2011 Softbound by F. Horan, P. Beighton
Inherited skeletal disorders have a fascination for many medical and surgical disciplines. For the geneticist there is interest in the study of families and their inheritance of lesions. The paediatrician is concerned because most of the disorders present in childhood as a problem in clinical differential diagnosis. The radiologist is interested because of the manifest, multiple and curious bone changes that provide a challenge in diagnosis and classification. The orthopaedic surgeon is involved because they present a challenge in the management of the many and various lesions of the limbs and trunk. Most of the text books are slanted towards one or other aspect of the subject, depending upon the specialist interests of their author. Though informative to colleagues in their own discipline, the information which they contain is liable to be overwhelming in its complexity or unhelpful in its content for the orthopaedic surgeon or trainee. Frank Horan and Peter Beighton have aimed their admirable and concise monograph to help the orthopaedic surgeon-the one individual who is likely to be able to ameliorate the musculo-skeletal problems from which so many of the children and adults with these diseases suffer. In recent years, much more orthopaedic help has become available for dysplastics. 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.