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.
Contents: فهرست فصول
Section/Chapter 1 Recognizable Patterns of MalformationsA Chromosomal Abnormality Syndromes Identified on Routine KaryotypeB Deletion, Duplication And Microduplication Syndromes Identifiable Using Molecular TechnologyC Very Small Stature, Not Skeletal DysplasiaD Moderate Short Stature, Facial and GenitalE Senile-Like AppearanceF Early Overgrowth with Associated DefectsG Unusual Brain and/or Neuromuscular Findings with Associated DefectsH Facial Defects as Major FeatureI Facial-Limb Defects as Major FeatureJ. Limb Defect as Major FeatureK. OsteochondrodysplasiasL. Osteochondrodysplasia with OsteopetrosisM. Craniosynostosis SyndromesN. Other Skeletal DysplasiasO. Storage DisordersP. Connective Tissue DisordersQ. HamartosesR. Ectodermal DysplasiasS. Environmental AgentsT. Miscellaneous SyndromesU. Miscellaneous SequencesV. Spectra of DefectsW. Miscellaneous AssociationsSECTION/CHAPTER 2 Genetics, Genetic Counseling and PreventionCH 2 Genetics, Genetic Counseling and PreventionSECTION/CHAPTER 3: Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation SyndromesCH 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation SyndromesSECTION/CHAPTER 4: Normal StandardsCH 4 Normal StandardsAppendix: Pattern of Malformation Differential Diagnosis by AnomalieesIndex