Human Achondroplasia: A Multidisciplinary Approach

Front Matter....Pages i-xxi
Front Matter....Pages 1-1
The Natural History of Achondroplasia....Pages 3-9
Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects....Pages 11-15
Premutation in Achondroplasia....Pages 17-25
Achondroplasia — A Clinician’s Viewpoint....Pages 27-29
Radiologic Features of Achondroplasia....Pages 31-44
Osteogenesis Imperfecta — A Model for the Analysis of Inborn Errors of Connective Tissue....Pages 45-51
Molecular Genetic Studies in Achondroplasia....Pages 53-58
Molecular Studies in Achondroplasia using Co12A1 Probes....Pages 59-60
Histochemical and Ultrastructural Study of the Growth Plate in Achondroplasia....Pages 61-71
Gene Expression in the Early Mouse Embryo and Cultured Cells....Pages 73-80
Growth Plate Cartilage Studies in Achondroplasia....Pages 81-89
Achondroplastic Mice: Morphological Investigations of Epiphyseal Cartilage and Bone....Pages 91-96
Collagen Distribution in Endochondral Cartilage Obtained in Vitro from Dedifferentiated Cells....Pages 97-99
Front Matter....Pages 101-101
The Skull in Achondroplasia....Pages 103-107
Bone Formation in Achondroplasia....Pages 109-122
Clinical Variability in Achondroplasia....Pages 123-127
GH Therapy in Two Patients with Osteochondrodysplasia....Pages 129-133
Achondroplasia: An Altered GH Control in Post-Receptorial Chondrocyte Cell Sites?....Pages 135-141
Audiologic Findings in Achondroplasia....Pages 143-147
Otologic Impairments in Achondroplasia: A Nosologic Assessment....Pages 149-152
Front Matter....Pages 101-101
Neurological Considerations in Achondroplasia....Pages 153-162
Hypochondroplasia: Radiological Diagnosis and Differential Diagnosis....Pages 163-166
Anaesthesia in Achondroplastic Dwarves....Pages 167-174
Mesomelic Dwarfism: Campailla-Martinelli Type....Pages 175-176
Acromesomelic Dwarfism: Maroteaux-Martinelli-Campailla Type....Pages 177-178
The Unreliability of Metacarpo-Phalangeal Profile (MPP) in the Diagnosis of Achondroplasia....Pages 179-181
Evaluation of Hearing in Achondroplastic Patients....Pages 183-184
Front Matter....Pages 187-187
Orthopedic Aspects of Achondroplasia in Children....Pages 189-197
Cervicomedullary Cord Compression in Young Children with Achondroplasia: Value of Comprehensive Neurologic and Respiratory Evaluation....Pages 199-206
Surgical Management of Cervicomedullary Compression in Achondroplastic Patients....Pages 207-214
Cervical Abnormalities in Osteochondrodysplasia....Pages 215-217
Anatomy of the Lumbar Spinal Canal....Pages 219-226
Anatomy of the Lumbar Spine in Achondroplasia....Pages 227-239
Thoracolumbar Kyphosis and Lumbosacral Hyperlordosis in Achondroplastic Children....Pages 241-255
Surgical Treatment of Kyphosis in Achondroplasia....Pages 257-259
Extended Laminectomy for Spinal Stenosis in Achondroplasia....Pages 261-273
The Subarachnoid Fluid Space in Achondroplastic Spinal Stenosis: The Surgical Implication....Pages 275-281
Treatment of Kyphosis and Lumbar Stenosis in Achondroplasia....Pages 283-292
Relevant Principles in the Management of Spinal Disorders in Achondroplasia....Pages 293-298
Spinal Disorders: Kyphosis and Lumbar Stenosis....Pages 299-303
Front Matter....Pages 187-187
Kyphosis and Lumbar Stenosis in Achondroplasia....Pages 305-311
Orthotic Correction of Sitting Abnormality in Achondroplastic Children....Pages 313-317
Front Matter....Pages 321-321
The Possibilities Offered by Our Method for Lengthening Various Segments in Upper and Lower Limbs....Pages 323-324
Neurological Complications Arising in Bilateral Lengthening of the Tibiae in an Achondroplastic Subject....Pages 325-331
Techniques and Results in Extensive Limb Lengthening....Pages 333-351
Lengthening of the Lower Limbs in Achondroplastics....Pages 353-355
Lengthening of the Lower Limbs and Correction of Lumbar Hyperlordosis in Achondroplasia....Pages 357-371
Biomechanical Problems, Axial Deviation and Functional Recovery in Extensive Limb Lengthening....Pages 373-380
Strategies for Limb Lengthening in Achondroplasia Using the Ilizarov Method — The Experience of the Hospital of Lecco, Italy....Pages 381-388
Auxological Results of Surgical Correction of Hypometries in Congenital Osteodysplasia....Pages 389-393
An Analysis of Referrals to a Regional Leg-Lengthening Service with Special Reference to Achondroplasia....Pages 395-401
Techniques and Complications in Extensive Limb Lengthening....Pages 403-405
Instability of External Fixators: Evaluation of the Problem and Suggestions for a Solution....Pages 407-411
Characteristics of the Variodyne External Fixators....Pages 413-414
Front Matter....Pages 443-443
The Experience and the Expectations of Achondroplastic Subjects During the Period of Surgical Lengthening....Pages 445-446
The Psychodynamics of Achondroplasia....Pages 447-451
Social Implications of Achondroplasia — A Public Health View....Pages 453-455
Social Implications of Achondroplasia — A Public Health Review....Pages 457-459
Surgical Lengthening of Limbs in Achondroplastic Children: A Medical and Psycho-Social Program to Select and Treat Patients....Pages 461-462
Back Matter....Pages 475-491