Human Achondroplasia

A Multidisciplinary Approach

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

Part of the Basic Life Sciences book series (BLSC, volume 48)

Table of contents

  1. Front Matter
    Pages i-xxi
  2. Genetics, Ultrastructure and Cartilage Histochemistry

    1. Front Matter
      Pages 1-1
    2. Judith G. Hall
      Pages 3-9
    3. John M. Opitz
      Pages 17-25
    4. Frederic N. Silverman
      Pages 31-44
    5. Clair A. Francomano, Phan-Lan Le, Reed E. Pyeritz
      Pages 53-58
    6. E. Ippolito, J. A. Maynard, M. R. Mickelson, I. V. Ponseti
      Pages 61-71
    7. William A. Horton, O. Jean Hood, Mirta A. Machado, Dianna Campbell
      Pages 81-89
  3. Clinical Findings, Growth Disorders, and Anaesthesiological Problems

    1. Front Matter
      Pages 101-101
    2. Jürgen Spranger
      Pages 103-107
    3. Ignacio V. Ponseti
      Pages 109-122
    4. David L. Rimoin
      Pages 123-127
    5. E. Cacciari, P. Pirazzoli, M. Mandini
      Pages 129-133
    6. J. M. McDonald, W. S. Seipp, E. M. Gordon, J. Heroy
      Pages 143-147
    7. V. Pinelli, R. Masi, P. Partipilo, V. Pierro, L. Tieri
      Pages 149-152
    8. Orest Hurko, Reed Pyeritz, Sumio Uematsu
      Pages 153-162
    9. A. Lauri, M. Marri, C. Galli, V. Giusti, M. Corbari, P. Koch
      Pages 167-174
    10. E. Campailla, P. Maroteaux
      Pages 175-176
    11. E. Campailla, P. Maroteaux
      Pages 177-178
    12. R. Pallotta, M. Castiglione, R. Nardi, G. Carlone
      Pages 179-181
    13. M. Stura, S. Boero, C. Origo, V. Tarantino
      Pages 183-184
  4. Spinal Disorders

    1. Front Matter
      Pages 187-187
    2. Steven E. Kopits
      Pages 189-197
    3. Cheryl S. Reid, Reed E. Pyeritz, Steven E. Kopits, Bernard L. Maria, Henry Wang, Robert W. McPherson et al.
      Pages 199-206
    4. B. Carson, J. Winfield, H. Wang, C. Reid, R. McPherson, S. Kopits et al.
      Pages 207-214
    5. John E. Lonstein
      Pages 219-226
    6. G. C. Giglio, R. Passariello, G. Pagnotta, M. Crostelli, E. Ascani
      Pages 227-239
    7. Elizabeth Streeten, Sumio Uematsu, Orest Hurko, Steven Kopits, Edmund Murphy, Reed Pyeritz
      Pages 261-273
    8. S. Uematsu, H. Wang, O. Hurko, S. E. Kopits
      Pages 275-281
    9. John P. O’Brien, Hossein Mehdian
      Pages 293-298
    10. J. Dubousset, J. Cl. Masson
      Pages 299-303
    11. Martin A. Nelson
      Pages 305-311
    12. A. A. Siebens, N. Kirby, D. Hungerford
      Pages 313-317
  5. Techniques and Results in Extensive Limb Lengthening (ELL)

    1. Front Matter
      Pages 321-321
    2. S. Mastragostino, G. P. Bagliani, S. Boero, C. Origo
      Pages 333-351

About this book


Embryo Osteogenesis imperfecta age aging anatomy gene expression genes genetics growth mutation system tissue treatment

Editors and affiliations

  • Benedetto Nicoletti
    • 1
  • Steven E. Kopits
    • 2
  • Elio Ascani
    • 3
  • Victor A. McKusick
    • 4
  • Shona C. Dryburgh
  1. 1.Second University of RomeRomeItaly
  2. 2.International Center for Skeletal DysplasiaSt. Joseph Hospital and The Johns Hopkins UniversityBaltimoreUSA
  3. 3.Institute of ResearchBambino Gesù HospitalRomeItaly
  4. 4.The Johns Hopkins UniversityBaltimoreUSA

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