Smiths Recognizable Patterns of Human Malformation: Expert Consult - Online and Print

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. INDICE: 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

• ISBN: 978-0-323-63882-1
• Editorial: Elsevier
• Encuadernacion: Cartoné
• Páginas: 1074
• Fecha Publicación: 01/06/2021
• Nº Volúmenes: 1
• Idioma: Inglés