Human Achondroplasia A Multidisciplinary Approach [Paperback]

Genetics, Ultrastructure and Cartilage Histochemistry.- The natural history of achondroplasia.- Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects.- Premutation in achondroplasia.- Achondroplasia: a clinicians viewpoint.- Radiologic features of achondroplasia.- Osteogenesis imperfecta: a model for the analysis of inborn errors of connective tissue.- Molecular genetic studies in achondroplasia.- Molecular studies in achondroplasia using Col2Al probes.- Histochemical and ultrastructural study of the growth plate in achondroplasia.- Gene expression in the early mouse embryo and cultured cells.- Growth plate cartilage studies in achondroplasia.- Achondroplastic mice: morphological investigations of epiphyseal cartilage and bone.- Collagen distribution of endochondral cartilage obtained in vitro from differentiated cells.- Clinical Findings, Growth Disordres, and Anaesthesiological Problems.- The skull in achondroplasia.- Bone formation in achondroplasia.- Clinical variability in achondroplasia.- GH therapy in two patients with osteochondrpdisplasia.- Achondroplasia: an altered GH control in post-receptorial chondrocyte cell sites?.- Audiologic findings in achondroplasia.- Otologic impairments in achondroplasia: a nosologic assessment.- Neurological considerations in achondroplasia.- Hypochondroplasia: radiological diagnosis and differential diagnosis.- Anaesthesia in achondroplastic dwarves.- Mesomelic dwarfism: Campailla-Martinelli type.- Acromesomelic dwarfism: Maroteaux-Martinelli-Campailla type.- The unreliability of metacarpo-phalangeal-profile (MPP) in the diagnosis of achondroplasia.- Evaluation of hearing in achondroplastic patients.- Discussion.- Spinal Disorders.- Orthopedic aspects of achondroplasia in children.- Cervicomedullary cord conpression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation.- Surgical management of cervico-medullary compreslcÅ