Smith's Recognizable Patterns of Human Malformation

Inbunden, Engelska, 2021

AvKenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo,California) Jones, Kenneth Lyons (Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla,California) Jones, Marilyn Crandall (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,Spain) del Campo, Miguel, MD, PhD (Assistant Professor, Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra; Consultant in Clinical Genetics, Programa de Medicina Molecular I Genetica, Hospital Vall d´Hebron, Barcelona,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.

Produktinformation

Utgivningsdatum2021-07-01
Mått184 x 260 x 44 mm
Vikt2 520 g
FormatInbunden
SpråkEngelska
Antal sidor1 088
Upplaga8
FörlagElsevier Health Sciences
ISBN9780323638821

Tillhör följande kategorier

Omvårdnad inom Medicin
Klinisk medicin och internmedicin inom Medicin
Pediatrik inom Medicin

Section/Chapter 1 Recognizable Patterns of Malformations 1. A Chromosomal Abnormality Syndromes Identified on Routine Karyotype2. B Deletion, Duplication And Microduplication 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

"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 CategoryWinner 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.