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Smith's Recognizable Patterns of Human Malformation

Genetic, Embryologic and Clinical Aspects
Buch | Hardcover
875 Seiten
1997 | 5th Revised edition
W B Saunders Co Ltd (Verlag)
978-0-7216-6115-5 (ISBN)
109,70 inkl. MwSt
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Provides information on a large number of common and rare disorders which cause human malformation. This title outlines the features of the conditions with information on natural history, etiology, and pathogenesis. It features illustrations and a list of references which include the initial description, a review, and pertinent molecular studies.
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 information that 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 succinctly 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".

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.

Erscheint lt. Verlag 16.1.1997
Reihe/Serie Major Problems in Pathology
Zusatzinfo 1370 ills
Verlagsort London
Sprache englisch
Maße 184 x 260 mm
Gewicht 2095 g
Themenwelt Medizin / Pharmazie Medizinische Fachgebiete Gynäkologie / Geburtshilfe
Medizin / Pharmazie Medizinische Fachgebiete Pädiatrie
Studium 1. Studienabschnitt (Vorklinik) Histologie / Embryologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
ISBN-10 0-7216-6115-7 / 0721661157
ISBN-13 978-0-7216-6115-5 / 9780721661155
Zustand Neuware
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