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Human Achondroplasia

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Cover of 'Human Achondroplasia'

Table of Contents

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    Book Overview
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    Chapter 1 The Natural History of Achondroplasia
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    Chapter 2 Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects
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    Chapter 3 Premutation in Achondroplasia
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    Chapter 4 Achondroplasia — A Clinician’s Viewpoint
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    Chapter 5 Radiologic Features of Achondroplasia
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    Chapter 6 Osteogenesis Imperfecta — A Model for the Analysis of Inborn Errors of Connective Tissue
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    Chapter 7 Molecular Genetic Studies in Achondroplasia
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    Chapter 8 Molecular Studies in Achondroplasia using Co12A1 Probes
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    Chapter 9 Histochemical and Ultrastructural Study of the Growth Plate in Achondroplasia
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    Chapter 10 Gene Expression in the Early Mouse Embryo and Cultured Cells
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    Chapter 11 Growth Plate Cartilage Studies in Achondroplasia
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    Chapter 12 Achondroplastic Mice: Morphological Investigations of Epiphyseal Cartilage and Bone
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    Chapter 13 Collagen Distribution in Endochondral Cartilage Obtained in Vitro from Dedifferentiated Cells
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    Chapter 14 The Skull in Achondroplasia
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    Chapter 15 Bone Formation in Achondroplasia
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    Chapter 16 Clinical Variability in Achondroplasia
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    Chapter 17 GH Therapy in Two Patients with Osteochondrodysplasia
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    Chapter 18 Achondroplasia: An Altered GH Control in Post-Receptorial Chondrocyte Cell Sites?
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    Chapter 19 Audiologic Findings in Achondroplasia
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    Chapter 20 Otologic Impairments in Achondroplasia: A Nosologic Assessment
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    Chapter 21 Neurological Considerations in Achondroplasia
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    Chapter 22 Hypochondroplasia: Radiological Diagnosis and Differential Diagnosis
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    Chapter 23 Anaesthesia in Achondroplastic Dwarves
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    Chapter 24 Mesomelic Dwarfism: Campailla-Martinelli Type
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    Chapter 25 Acromesomelic Dwarfism: Maroteaux-Martinelli-Campailla Type
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    Chapter 26 The Unreliability of Metacarpo-Phalangeal Profile (MPP) in the Diagnosis of Achondroplasia
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    Chapter 27 Evaluation of Hearing in Achondroplastic Patients
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    Chapter 28 Orthopedic Aspects of Achondroplasia in Children
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    Chapter 29 Cervicomedullary Cord Compression in Young Children with Achondroplasia: Value of Comprehensive Neurologic and Respiratory Evaluation
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    Chapter 30 Surgical Management of Cervicomedullary Compression in Achondroplastic Patients
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    Chapter 31 Cervical Abnormalities in Osteochondrodysplasia
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    Chapter 32 Anatomy of the Lumbar Spinal Canal
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    Chapter 33 Anatomy of the Lumbar Spine in Achondroplasia
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    Chapter 34 Thoracolumbar Kyphosis and Lumbosacral Hyperlordosis in Achondroplastic Children
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    Chapter 35 Surgical Treatment of Kyphosis in Achondroplasia
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    Chapter 36 Extended Laminectomy for Spinal Stenosis in Achondroplasia
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    Chapter 37 The Subarachnoid Fluid Space in Achondroplastic Spinal Stenosis: The Surgical Implication
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    Chapter 38 Treatment of Kyphosis and Lumbar Stenosis in Achondroplasia
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    Chapter 39 Relevant Principles in the Management of Spinal Disorders in Achondroplasia
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    Chapter 40 Spinal Disorders: Kyphosis and Lumbar Stenosis
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    Chapter 41 Kyphosis and Lumbar Stenosis in Achondroplasia
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    Chapter 42 Orthotic Correction of Sitting Abnormality in Achondroplastic Children
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    Chapter 43 The Possibilities Offered by Our Method for Lengthening Various Segments in Upper and Lower Limbs
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    Chapter 44 Neurological Complications Arising in Bilateral Lengthening of the Tibiae in an Achondroplastic Subject
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    Chapter 45 Techniques and Results in Extensive Limb Lengthening
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    Chapter 46 Lengthening of the Lower Limbs in Achondroplastics
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    Chapter 47 Lengthening of the Lower Limbs and Correction of Lumbar Hyperlordosis in Achondroplasia
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    Chapter 48 Biomechanical Problems, Axial Deviation and Functional Recovery in Extensive Limb Lengthening
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    Chapter 49 Strategies for Limb Lengthening in Achondroplasia Using the Ilizarov Method — The Experience of the Hospital of Lecco, Italy
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    Chapter 50 Auxological Results of Surgical Correction of Hypometries in Congenital Osteodysplasia
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    Chapter 51 An Analysis of Referrals to a Regional Leg-Lengthening Service with Special Reference to Achondroplasia
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    Chapter 52 Techniques and Complications in Extensive Limb Lengthening
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    Chapter 53 Instability of External Fixators: Evaluation of the Problem and Suggestions for a Solution
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    Chapter 54 Characteristics of the Variodyne External Fixators
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    Chapter 55 The Experience and the Expectations of Achondroplastic Subjects During the Period of Surgical Lengthening
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    Chapter 56 The Psychodynamics of Achondroplasia
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    Chapter 57 Social Implications of Achondroplasia — A Public Health View
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    Chapter 58 Social Implications of Achondroplasia — A Public Health Review
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    Chapter 59 Surgical Lengthening of Limbs in Achondroplastic Children: A Medical and Psycho-Social Program to Select and Treat Patients
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Title
Human Achondroplasia
Published by
Springer US, December 2012
DOI 10.1007/978-1-4684-8712-1
ISBNs
978-1-4684-8714-5, 978-1-4684-8712-1
Editors

Nicoletti, Benedetto, Kopits, Steven E., Ascani, Elio, McKusick, Victor A., Dryburgh, Shona C.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 88 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 88 100%

Demographic breakdown

Readers by professional status Count As %
Other 2 2%
Researcher 1 1%
Student > Bachelor 1 1%
Unknown 84 95%
Readers by discipline Count As %
Medicine and Dentistry 3 3%
Neuroscience 1 1%
Unknown 84 95%