Human Achondroplasia: A Multidisciplinary Approach: Basic Life Sciences, cartea 48

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 clinician’s 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.- Spinal Disorders.- Orthopedic aspects of achondroplasia inchildren.- Cervicomedullary cord conpression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation.- Surgical management of cervico-medullary compression in achondroplastic patients.- Cervical abnormalities in osteochondrodysplasia.- Anatomy of the lumbar spinal canal.- Anatomy of the lumbar spine in achondroplasia.- Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children.- Surgical treatment of kyphosis in achondroplasia.- Extended laminectomy for spinal stenosis in achondroplasia.- The subarachnoid fluid space in achondroplastic spinal stenosis: the surgical implication.- Treatment of kyphosis and lumbar stenosis in achondroplasia.- Relevant principles in the management of spinal disorders in achondroplasia.- Spinal disorders: Kyphosis and lumbar stenosis.- Kyphosis and lumbar stenosis in achondroplasia.- Orthotic correction of sitting abnormality in achondroplastic children.- Techniques and Results in Extensive Limb Lengthening (ELL).- The possibilities offered by our method for lengthening various segments in upper and lower limbs.- Neurological complications arising in bilateral lengthening of the tibiae in an achondroplastic subject.- Techniques and results in extensive limb lengthening.- Lengthening of the lower limbs in achondroplastics.- Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia.- Biomechanical problems, axial deviation and functional recovery in extensive limb lengthening.- Strategies for limb lengthening in achondroplasia using the Ilizarov method.- Auxological results or surgical correction of hypometries in congenital osteodysplasia.- An analysis of referrals to a regional leg-lengthening service, with special reference to achondroplasia.- Techniques and complications in extensive limb lengthening.- Instability of external fixators: evaluation of the problem and suggestions for a solution.- Characteristics of the Variodyne external fixator.- Social and Psychological Implications.- The experience and expectations of achondroplastic subjects during the period of surgical lengthening.- The psychodynamics of achondroplasia.- Social implications of achondroplasia — a public health view.- Social implications of achondroplasia — a public health review.- Surgical lengthening of limbs in achondroplastic children: a medical and psycho-social programme to select and treat patients.- Contributors.- Author Index.