Management of Genetic Syndromes
Management of Genetic Syndromes

Author: Suzanne B. Cassidy

Publisher: John Wiley & Sons

Published: 2011-09-20

Total Pages: 1678

ISBN-13: 1118210670

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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics

Cassidy and Allanson's Management of Genetic Syndromes
Cassidy and Allanson's Management of Genetic Syndromes

Author: John C. Carey

Publisher: John Wiley & Sons

Published: 2021-01-27

Total Pages: 1104

ISBN-13: 1119432677

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MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Genetic Disorders and the Fetus
Genetic Disorders and the Fetus

Author: Aubrey Milunsky

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 718

ISBN-13: 1468434381

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Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.

Management of Prader-Willi Syndrome
Management of Prader-Willi Syndrome

Author: Merlin Butler

Publisher: Springer Science & Business Media

Published: 2006-10-11

Total Pages: 569

ISBN-13: 0387335366

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Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

Management of Genetic Syndromes
Management of Genetic Syndromes

Author: Suzanne B. Cassidy

Publisher:

Published: 2010

Total Pages:

ISBN-13: 9781780342900

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The bestselling guide to the medical management of common genetic syndromes - now fully revised and expanded.

Handbook of Neurodevelopmental and Genetic Disorders in Adults
Handbook of Neurodevelopmental and Genetic Disorders in Adults

Author: Sam Goldstein

Publisher: Guilford Press

Published: 2005-08-24

Total Pages: 509

ISBN-13: 1593852061

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While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

The A-Z Reference Book of Syndromes and Inherited Disorders
The A-Z Reference Book of Syndromes and Inherited Disorders

Author: P A T R I C I A GILBERT

Publisher: Springer

Published: 2013-12-17

Total Pages: 389

ISBN-13: 1489969187

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The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

Disorders of Hemoglobin
Disorders of Hemoglobin

Author: Martin H. Steinberg

Publisher: Cambridge University Press

Published: 2009-08-17

Total Pages: 883

ISBN-13: 0521875196

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Completely revised new edition of the definitive reference on disorders of hemoglobin.

Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood
Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood

Author: Victor C. Baum

Publisher: Lippincott Williams & Wilkins

Published: 2007

Total Pages: 444

ISBN-13: 9780781779388

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Thoroughly updated for its Second Edition, this reference is the only single-source guide to the anesthetic management of children and adults with genetic, metabolic, and dysmorphic syndromes. In a format designed for quick, easy look-up, this edition provides an encyclopedic review of well over 500 distinct syndromes, with up-to-date information, complete current bibliographies, and over 140 clinical photographs. Syndromes and synonyms are listed alphabetically and synonyms are cross-referenced. Each syndrome is presented in an easy-to-follow format: name, synonym(s), common and uncommon manifestations in each organ system, and anesthetic considerations. If a syndrome has no anesthetic implications, this is also indicated.

Metabolic Diseases
Metabolic Diseases

Author: E. Gilbert-Barness

Publisher: IOS Press

Published: 2017-01-06

Total Pages: 960

ISBN-13: 1614997187

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The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.