cover image - Smith's Recognizable Patterns of Human Malformation, 8th Edition
ISBN: 9780323638821
Copyright: 2022
Publication Date: 06-04-2021
Page Count: 1088
Imprint: Elsevier
List Price: $116.99

Smith's Recognizable Patterns of Human Malformation, 8th Edition

by Kenneth Lyons Jones, MD, Marilyn Crandall Jones, MD and Miguel del Campo, MD, PhD

Hardcover

cover image - Smith's Recognizable Patterns of Human Malformation, 8th Edition
ISBN: 9780323638821
Copyright: 2022
Publication Date: 06-04-2021
Page Count: 1088
Imprint: Elsevier
List Price: $116.99

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Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.

    • Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.

    • Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.

    • Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.

    • Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.

    • Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents.

    • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

  • Section/Chapter 1 Recognizable Patterns of Malformations

    1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype

    2. B Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular Technology

    3. C Very Small Stature, Not Skeletal Dysplasia

    4. D Moderate Short Stature, Facial and Genital

    5. E Senile-Like Appearance

    6. F Early Overgrowth with Associated Defects

    7. G Unusual Brain and/or Neuromuscular Findings with Associated Defects

    8. H Facial Defects as Major Feature

    9. I Facial-Limb Defects as Major Feature

    10. J. Limb Defect as Major Feature

    11. K. Osteochondrodysplasias

    12. L. Osteochondrodysplasia with Osteopetrosis

    13. M. Craniosynostosis Syndromes

    14. N. Other Skeletal Dysplasias

    15. O. Storage Disorders

    16. P. Connective Tissue Disorders

    17. Q. Hamartoses

    18. R. Ectodermal Dysplasias

    19. S. Environmental Agents

    20. T. Miscellaneous Syndromes

    21. U. Miscellaneous Sequences

    22. V. Spectra of Defects

    23. W. Miscellaneous Associations

    SECTION/CHAPTER 2 Genetics, Genetic Counseling and Prevention

    24. CH 2 Genetics, Genetic Counseling and Prevention

    SECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

    25. CH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

    SECTION/CHAPTER 4: Normal Standards

    26. CH 4 Normal Standards

    Appendix I

    27. Appendix 1: Pattern of Malformation Differential Diagnosis by Anomaliees

  • Kenneth Lyons Jones, MD, Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, California, Marilyn Crandall Jones, MD, Professor of Clinical Pediatrics, Department of Pediatrics, University of California, San Diego School of Medicine La Jolla, California; Clinical Service Chief, Division of Genetics, Rady Children’s Hospital, San Diego, California and Miguel del Campo, MD, PhD, Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra; Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain

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