Smith's Recognizable Patterns of Human Malformation,
Edition 8Editors: By Kenneth Lyons Jones, MD, Marilyn Crandall Jones, MD and Miguel del Campo, MD, PhD
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Description
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.Key Features
- 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.
About the author
By 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; Miguel del Campo, MD, PhD, Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra and Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain
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
Title Reviews
“While individual conditions are rare, for pediatricians, managing patients with rare diseases is a part of our core work. This reference book is written in a clear, diverse, and accessible fashion, with an excellent range of clinical photographs and diagrams to deliver the key messages in a concise format. This will be a very valuable resource to determine the diagnosis and improve the management of patients with dysmorphology.¿ -Winner of the BMA Medical Book Awards 2022 Pediatrics and Child Health Category
Winner of the BMA Medical Book Awards 2022 Paediatrics and Child Health Category
“While individual conditions are rare, for paediatricians, managing patients with rare diseases is a part of our core work. This reference book is written in a clear, diverse, and accessible fashion, with an excellent range of clinical photographs and diagrams to deliver the key messages in a concise format. This will be a very valuable resource to determine the diagnosis and improve the management of patients with dysmorphology.¿
pediatricians, neonatologists, family medicine, geneticists, nurse practitioners, and physicians assistants
