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Limb Malformations

An Atlas of Genetic Disorders of Limb Development

  • Book
  • Dec 2014

Overview

Authors:
  1. Stefan Mundlos

    1. Institut für Medizinische Genetik und Humangenetik, Berlin, Germany

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  2. Denise Horn

    1. Institut für Medizinische Genetik und Humangenetik, Berlin, Germany

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    You can also search for this author in PubMed   Google Scholar

  • Practical Guide to the diagnosis of Limb Malformations
  • Abundantly illustrated with many clinical photos and radiographs
  • Comprehensive and concise

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Table of contents (102 chapters)

  1. Front Matter

    Pages i-xiv
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  2. Introduction

    1. Front Matter

      Pages 1-1
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    2. Development of the Limbs

      • Stefan Mundlos, Denise Horn
      Pages 2-9

    3. Clinical Assessment and Anthropometry of the Limbs

      • Stefan Mundlos, Denise Horn
      Pages 10-16

    4. Radiology of the Limb

      • Stefan Mundlos, Denise Horn
      Pages 17-21

    5. Surgical Management Principles for Congenital Upper Limb Malformations

      • Stefan Mundlos, Denise Horn
      Pages 22-28

  3. Disorders: Polydactyly Isolated

    1. Front Matter

      Pages 29-29
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    2. Preaxial Polydactyly

      • Stefan Mundlos, Denise Horn
      Pages 30-30

    3. Postaxial Polydactyly

      • Stefan Mundlos, Denise Horn
      Pages 31-32

    4. Greig Cephalopolysyndactyly Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 33-35

    5. Triphalangeal Thumb-Polydactyly Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 36-37

    6. Synpolydactyly

      • Stefan Mundlos, Denise Horn
      Pages 38-40

    7. Laurin–Sandrow Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 41-43

  4. Disorders: Polydactyly Associated

    1. Front Matter

      Pages 45-45
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    2. Ellis–Van Creveld Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 46-48

    3. Short Rib-Polydactyly Syndromes

      • Stefan Mundlos, Denise Horn
      Pages 49-50

    4. Bardet–Biedl Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 51-52

    5. Meckel Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 53-54

    6. Carpenter Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 55-56

    7. Acrocallosal Syndrome

      • Stefan Mundlos, Denise Horn
      Pages 57-58
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Keywords

About this book

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.

Authors and Affiliations

  • Institut für Medizinische Genetik und Humangenetik, Berlin, Germany

    Stefan Mundlos, Denise Horn

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