Smith's Recognizable Patterns of Human Malformation

  • Kenneth Lyons Jones Marilyn Crandall Jones Miguel del Campo
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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
Uitgavejaar 2021
ISBN 9780323638821
Verschijningsdatum 1 jul. 2021
Omvang 1088
Editie 8th edition
Auteur(s) Kenneth Lyons Jones Marilyn Crandall Jones Miguel del Campo
Bindwijze Gebonden
Taal Engels
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