Syndromology is the clinical art of diagnosing children with multiple anomalies, many of which have specific diagnostic entities. Syndrome diagnosis is important because it fosters good patient care. As an unknown syndrome becomes delineated, its spectrum of anomalies, its natural history, and its recurrence risk become known, permitting better patient care and family counseling.
So many syndromes with overlapping features have been described that confusion is common. This heavily illustrated book provides a rational work-up of patients with multiple anomalies. In lively fashion, the author discusses the history and clinical assessment of such patients, pointing out situations that require laboratory studies. He gives readers the necessary vocabularly and then discusses quantitative and qualitative approaches to the methodology of syndrome diagnosis. The volume concludes with chapters on dysmorphic growth and development, mental deficiency, and psychosocial considerations.
Rapid advances in the field in recent years made fundamental changes to the text of the earlier edition necessary. The second edition has been completely reorganized and much new material has been added, including chapters on genetics, teratogens, minor anomalies, facial dysmorphology, syndrome classifications, and a guide to physical measurements. Since it emphasizes conceptual aspects, this book is suitable for medical students, pediatricians, medical geneticists, and other health professionals.
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M. Michael Cohen, Professor of Pediatrics, Faculty of Medicine, Dalhousie University (Emeritus).Review:
"... an important introductory text for students, residents and fellows interested in syndromology. ... will find a place alongside other standard texts on genetic syndromes in medical libraries and departments of clincial genetics. It will serve as a useful reference to students of
syndromology seeking to develop their own approach to this complex discipline." Paediatric and Child Health (March 1999)
"A new and extensively rewritten edition of a respected textbook. Dr. Cohen has significantly reorganized and updated the book... The book is highly readable and the text is supplemented by many informative and often entertaining illustrations."--Journal of Medical Genetics
"A unique approach to the understanding and diagnosis of the child with multiple congenital anomalies....The illustrations, pedigree charts, diagrams, and many tables are excellent. A wonderful addition is the inclusion of many cartoons throughout the book, which add a unique, refreshing touch
of intellectual humor....The author has condensed his encyclopedic knowledge and used his analytical mind to clearly produce and invaluable text. He has brought order out of sometimes chaos. This volume is a must for clinical geneticists, dysmorphologists, pediatricians, and pediatric
pathologists."--Enid Gilbert-Barness, MD, Archives of Pediatric and Adolescent Medicine
"The strength of this book lies in its coverage of concepts which are necessary for emerging clinical geneticists to learn in order to practice medical genetics...it does a good job integrating these elements and emphasizing the need to think about the pathogenesis of various
phenotypes."--American Journal of Medical Genetics
"...it serves as an important introductory text....It will serve as a usefulreference to students..."--Pediatric and Child Health
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Descripción Oxford University Press, 1997. Hardcover. Estado de conservación: New. Never used!. Nº de ref. de la librería P110195099265