Human Achondroplasia [electronic resource] : A Multidisciplinary Approach /

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 in children -- 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.

Bibliographic Details

Main Authors:	Nicoletti, Benedetto. editor., Kopits, Steven E. editor., Ascani, Elio. editor., McKusick, Victor A. editor., Dryburgh, Shona C. editor., SpringerLink (Online service)
Format:	Texto biblioteca
Language:	eng
Published:	Boston, MA : Springer US, 1988
Subjects:	Medicine., Human genetics., Plant science., Botany., Animal anatomy., Biomedicine., Human Genetics., Animal Anatomy / Morphology / Histology., Plant Sciences.,
Online Access:	http://dx.doi.org/10.1007/978-1-4684-8712-1
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