Limb Malformations

An Atlas of Genetic Disorders of Limb Development

  • Stefan Mundlos
  • Denise Horn

Table of contents

  1. Front Matter
    Pages i-xiv
  2. Introduction

    1. Front Matter
      Pages 1-1
    2. Stefan Mundlos, Denise Horn
      Pages 2-9
    3. Stefan Mundlos, Denise Horn
      Pages 10-16
    4. Stefan Mundlos, Denise Horn
      Pages 17-21
  3. Disorders: Polydactyly Isolated

    1. Front Matter
      Pages 29-29
    2. Stefan Mundlos, Denise Horn
      Pages 30-30
    3. Stefan Mundlos, Denise Horn
      Pages 31-32
    4. Stefan Mundlos, Denise Horn
      Pages 33-35
    5. Stefan Mundlos, Denise Horn
      Pages 36-37
    6. Stefan Mundlos, Denise Horn
      Pages 38-40
    7. Stefan Mundlos, Denise Horn
      Pages 41-43
  4. Disorders: Polydactyly Associated

    1. Front Matter
      Pages 45-45
    2. Stefan Mundlos, Denise Horn
      Pages 46-48
    3. Stefan Mundlos, Denise Horn
      Pages 49-50
    4. Stefan Mundlos, Denise Horn
      Pages 51-52
    5. Stefan Mundlos, Denise Horn
      Pages 53-54
    6. Stefan Mundlos, Denise Horn
      Pages 55-56
    7. Stefan Mundlos, Denise Horn
      Pages 57-58

About this book

Introduction

One aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. With the enormous advances in molecular and developmental biology, the genetic basis of many limb malformations and their relationship to each other has been elucidated. Thus, a further aim of this atlas is to provide the reader with a basic understanding of the molecular pathology of these conditions.

The book is extensively illustrated with clinical photos and radiographs of conditions or groups of related conditions. In addition, a concise description of the conditions is provided featuring structured information on “Synonyms”, “Major clinical findings”, “Genetic transmission”, “Differential diagnosis”, “Molecular Pathology”, and references to Mendelian Inheritance in Man (OMIM).

The book is designed for medical geneticists, radiologists, pediatricians, hand surgeons, orthopedic surgeons, as well as medical personnel and other physicians involved in the evaluation and treatment of patients with abnormal limbs.

Keywords

Congenital Malformations Deformity Heritable diseases of the limbs Limb development

Authors and affiliations

  • Stefan Mundlos
    • 1
  • Denise Horn
    • 2
  1. 1.Institut für Medizinische Genetik und HumangenetikBerlinGermany
  2. 2.Institut für Medizinische Genetik und HumangenetikBerlinGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-540-95928-1
  • Copyright Information Springer-Verlag Berlin Heidelberg 2014
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-540-95927-4
  • Online ISBN 978-3-540-95928-1
  • About this book