Smith's Recognizable Patterns of Human Malformation: Expert Consult - Online and Print

Jones MD, Kenneth Lyons

ISBN 10: 0721661157 / ISBN 13: 9780721661155

Editore: Saunders, 1996

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Titolo: Smith's Recognizable Patterns of Human ...

Casa editrice: Saunders

Data di pubblicazione: 1996

Legatura: hardcover

Condizione: Good

Edizione: quinta edizione o successive

Descrizione articolo

Riassunto:

The Fifth Edition of Smith's Recognizable Patterns of Human Malformation continues to be a user-friendly reference that is designed to be taken to the bedside or wherever children and/or adults with problems relating to malformation are seen. It provides concise but complete information on a large number of common and rare disorders which cause human malformation. In one or two pages the author outlines the salient features of the condition with information on natural history, etiology, and pathogenesis. Textual material is accompanied by illustrations and a brief list of references which typically include the initial description, a comprehensive review, and pertinent molecular studies. The work is designed to allow a practitioner easy access to informationthat is otherwise not readily available.
Reviews of the 4th Edition:
"The most widely used pediatric reference for identifying malformation syndromes."
--Dysmorphology and Clinical Genetics

"The book is succintly written, and its standard format is easy to use. All illustrations, including the radiographic reproductions, are of excellent quality...The best reference text on human malformation currently available."
--American Journal of Roentgenology

Contenuti:

Recognizable Patterns of Malformation: Chromosomal Abnormality Syndromes. Very Small Stature, Not Skeletal Dysplasia. Moderate Short Stature, Facial, +/- Genital. Senile-Like Appearance. Early Overgrowth with Associated Defects. Unusual Brain And/Or Neuromuscular Findings with Associated Defects. Facial Defects as Major Feature. Limb Defects as Major Feature. Osteochondrodysplasias. Osteochondrodysplasias with Osteopetrosis. Craniosynostosis Syndromes. Other Skeletal Dysplasias. Storage Disorders. Connective Tissue Disorders. Hamartoses. Ectodermal Dysplasias. Environmental Agents. Miscellaneous Syndromes. Miscellaneous Sequences. Spectra of Defects. Miscellaneous Associations. Alphabetical Listing of Syndromes. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia. Morphogenesis and Dysmorphogenesis. Genetics, Genetic Counselling and Prevention. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes. Normal Standards. Pattern of Malformation Differential Diagnosis By Anomalies.