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Biomedical Sciences - Human Genetics | Limb Malformations - An Atlas of Genetic Disorders of Limb Development

Limb Malformations

An Atlas of Genetic Disorders of Limb Development

Mundlos, Stefan, Horn, Denise

2014, XVI, 267 p. 600 illus., 500 illus. in color.

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  • Practical guide to the diagnosis of limb malformations
  • Abundantly illustrated with many clinical photos and radiographs
  • Comprehensive and concise

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.

Content Level » Professional/practitioner

Keywords » Congenital Malformations - Deformity - Heritable diseases of the limbs - Limb development

Related subjects » Human Genetics - Orthopedics - Pediatrics - Radiology

Table of contents 

Introduction: Principles of Limb Development.– Clinical Evaluation of the Limb.– Radiology of the Hand.– Disorders: Classification and Nomenclature of Congenital Limb Anomalies.– The Hand in Congenital Malformation Syndromes.– Polydactyly.– Reduction Anomalies.– Hypoplasia unilateral.– Defects Ray/Tibia.– Defects Ulnar Ray/Fibula.– Defects Proximal Limb.– Non-genetic Reduction anomalies.– Defects in Dorso-ventral pattering.– Brachydactyly.– Syndactyly.– Defects of Joint formation/Synostosis.– Syndromes with Various Types of Limb Malformations.– Contracture Deformities.– Acromesomeclic Dysplasia.– Macrodactyly/Overgrowth.- Echondromatoses.

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