Description
Elsevier Smiths Recognizable Patterns of Human Malformation 2021 Edition by Kenneth Lyons Jones, Marilyn Crandall Jones
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.
Table of Contents :- Section/Chapter 1 Recognizable Patterns of Malformations 1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype2. B Deletion, Duplication And Micro duplication Syndromes Identifiable Using Molecular Technology3. C Very Small Stature, Not Skeletal Dysplasia4. D Moderate Short Stature, Facial and Genital5. E Senile-Like Appearance6. F Early Overgrowth with Associated Defects7. G Unusual Brain and/or Neuromuscular Findings with Associated Defects8. H Facial Defects as Major Feature9. I Facial-Limb Defects as Major Feature10. J. Limb Defect as Major Feature11. K. Osteochondrodysplasias12. L. Osteochondrodysplasia with Osteopetrosis13. M. Craniosynostosis Syndromes14. N. Other Skeletal Dysplasias15. O. Storage Disorders16. P. Connective Tissue Disorders17. Q. Hamartoses18. R. Ectodermal Dysplasias19. S. Environmental Agents20. T. Miscellaneous Syndromes21. U. Miscellaneous Sequences22. V. Spectra of Defects23. W. Miscellaneous AssociationsSECTION/CHAPTER 2 Genetics, Genetic Counseling and Prevention24. CH 2 Genetics, Genetic Counseling and PreventionSECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes25. CH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation SyndromesSECTION/CHAPTER 4: Normal Standards26. CH 4 Normal StandardsAppendix I27. Appendix 1: Pattern of Malformation Differential Diagnosis by Anomaliees