Smith's Recognizable Patterns of Human Malformation

AvKenneth Lyons Jones,Marilyn Crandall Jones

Inbunden, Engelska, 2021

989 kr

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Beskrivning

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

Utgivningsdatum:2021-07-01
Mått:184 x 260 x 44 mm
Vikt:2 520 g
Format:Inbunden
Språk:Engelska
Antal sidor:1 088
Upplaga:8
Förlag:Elsevier Health Sciences
ISBN:9780323638821

Utforska kategorier

Pediatrik inom Medicin

Recensioner i media

"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.

Innehållsförteckning

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