Orthopaedic Problems in Inherited Skeletal Disorders

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.- 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-Hünerman 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.