Human Achondroplasia

A Multidisciplinary Approach

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

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

Table of contents

  1. Front Matter
    Pages i-xxi
    PDF

  2. Genetics, Ultrastructure and Cartilage Histochemistry

    1. Front Matter
      Pages 1-1
      PDF
    2. The Natural History of Achondroplasia
      Judith G. Hall
      Pages 3-9
    3. Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects
      G. Camera, P. Mastroiacovo
      Pages 11-15
    4. Premutation in Achondroplasia
      John M. Opitz
      Pages 17-25
    5. Achondroplasia — A Clinician’s Viewpoint
      P. Maroteaux
      Pages 27-29
    6. Radiologic Features of Achondroplasia
      Frederic N. Silverman
      Pages 31-44
    7. Osteogenesis Imperfecta — A Model for the Analysis of Inborn Errors of Connective Tissue
      F. Ramirez
      Pages 45-51
    8. Molecular Genetic Studies in Achondroplasia
      Clair A. Francomano, Phan-Lan Le, Reed E. Pyeritz
      Pages 53-58
    9. Molecular Studies in Achondroplasia using Co12A1 Probes
      Charles M. Strom
      Pages 59-60
    10. Histochemical and Ultrastructural Study of the Growth Plate in Achondroplasia
      E. Ippolito, J. A. Maynard, M. R. Mickelson, I. V. Ponseti
      Pages 61-71
    11. Gene Expression in the Early Mouse Embryo and Cultured Cells
      Markku Kurkinen
      Pages 73-80
    12. Growth Plate Cartilage Studies in Achondroplasia
      William A. Horton, O. Jean Hood, Mirta A. Machado, Dianna Campbell
      Pages 81-89
    13. Achondroplastic Mice: Morphological Investigations of Epiphyseal Cartilage and Bone
      Ermanno Bonucci, Benedetto Nicoletti
      Pages 91-96
    14. Collagen Distribution in Endochondral Cartilage Obtained in Vitro from Dedifferentiated Cells
      C. Tacchetti, R. Quarto, R. Cancedda
      Pages 97-99

  3. Clinical Findings, Growth Disorders, and Anaesthesiological Problems

    1. Front Matter
      Pages 101-101
      PDF
    2. The Skull in Achondroplasia
      Jürgen Spranger
      Pages 103-107
    3. Bone Formation in Achondroplasia
      Ignacio V. Ponseti
      Pages 109-122
    4. Clinical Variability in Achondroplasia
      David L. Rimoin
      Pages 123-127
    5. GH Therapy in Two Patients with Osteochondrodysplasia
      E. Cacciari, P. Pirazzoli, M. Mandini
      Pages 129-133

About this book

Keywords

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

Bibliographic information