Cassidy And Allansons Management Of Genetic Syndromes

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Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey

Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

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Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Genetic Disorders and the Fetus

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher :
ISBN 13 : 9781780342900
Total Pages : pages
Book Rating : 4.3/5 (429 download)

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Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by . This book was released on 2010 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes - now fully revised and expanded.

Preventive Management of Children with Congenital Anomalies and Syndromes

Author : Golder Wilson
Publisher : Cambridge University Press
ISBN 13 : 9780521776738
Total Pages : 600 pages
Book Rating : 4.7/5 (767 download)

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Book Synopsis Preventive Management of Children with Congenital Anomalies and Syndromes by : Golder Wilson

Download or read book Preventive Management of Children with Congenital Anomalies and Syndromes written by Golder Wilson and published by Cambridge University Press. This book was released on 2000-06-15 with total page 600 pages. Available in PDF, EPUB and Kindle. Book excerpt: CD contains copies of the checklists in the text along with additional supplementary material.

Preimplantation Genetic Diagnosis

Author : Joyce C. Harper
Publisher : John Wiley & Sons
ISBN 13 : 0470851732
Total Pages : 278 pages
Book Rating : 4.4/5 (78 download)

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Book Synopsis Preimplantation Genetic Diagnosis by : Joyce C. Harper

Download or read book Preimplantation Genetic Diagnosis written by Joyce C. Harper and published by John Wiley & Sons. This book was released on 2003-01-17 with total page 278 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preimplantation Genetic Diagnosis (PGD) is the detection and screening of genetic abnormality in gametes prior to fertilisation and embryos fertilised in vitro prior to implantation. This exciting new text provides an introduction and overview of the principles of PGD. An exciting fusion of prenatal diagnosis (PD) with in vitro fertilisation (IVF), this book is will appeal to both the prenatal diagnosis community, of clinical geneticists and foetal medicine specialists within obstetrics and gynaecology, and the IVF community within reproductive medicine. It is also an essential introduction to PD, clinical genetics and IVF for non-specialists. A concise introduction to the field of PGD Detailed explanations of the techniques and procedures used The law and ethical implications of PGD Future uses of PGD

Bone Dysplasias

Author : Jürgen W. Spranger
Publisher : Oxford University Press
ISBN 13 : 0190626666
Total Pages : 976 pages
Book Rating : 4.1/5 (96 download)

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Book Synopsis Bone Dysplasias by : Jürgen W. Spranger

Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press. This book was released on 2018-10-25 with total page 976 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.

Audiology

Author : Fred H. Bess
Publisher :
ISBN 13 :
Total Pages : 392 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Audiology by : Fred H. Bess

Download or read book Audiology written by Fred H. Bess and published by . This book was released on 2008 with total page 392 pages. Available in PDF, EPUB and Kindle. Book excerpt: Designed for students in audiology or students desiring a broad survey of the profession. This title includes design with anatomical drawings. It also includes the logical progression from fundamentals to more complex topics, and simple illustrations.

X & Y Chromosomal Variations

Author : Carole A. Samango-Sprouse
Publisher : Biota Publishing
ISBN 13 : 1615046917
Total Pages : 138 pages
Book Rating : 4.6/5 (15 download)

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Book Synopsis X & Y Chromosomal Variations by : Carole A. Samango-Sprouse

Download or read book X & Y Chromosomal Variations written by Carole A. Samango-Sprouse and published by Biota Publishing. This book was released on 2016-10-11 with total page 138 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first book on X and Y chromosomal disorders to address these common but rarely diagnosed conditions. This book seeks to present the latest in research and clinical care addressing neuroimaging, the interaction between hormones, brain development, and neurodevelopmental progression. This book will primarily focus on 47, XXY (Klinefelter syndrome, or KS), 47, XYY (Jacobs' syndrome), and 47, XXX (Triple X). More variant disorders such as 48, XXXX, 48, XXXY and 49, XXXXY will be discussed. Topics of interest include neurological functioning, neuroimaging, social language, and the evolving perspectives of these XY chromosomal disorders. The effects of testosterone supplementation in males with 47, XXY will also be examined.

Management of Prader-Willi Syndrome

Author : Merlin Butler
Publisher : Springer Science & Business Media
ISBN 13 : 0387335366
Total Pages : 569 pages
Book Rating : 4.3/5 (873 download)

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Book Synopsis Management of Prader-Willi Syndrome by : Merlin Butler

Download or read book Management of Prader-Willi Syndrome written by Merlin Butler and published by Springer Science & Business Media. This book was released on 2006-10-11 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Human Genetics and Genomics

Author : Bruce R. Korf
Publisher : John Wiley & Sons
ISBN 13 : 1118537661
Total Pages : 280 pages
Book Rating : 4.1/5 (185 download)

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Book Synopsis Human Genetics and Genomics by : Bruce R. Korf

Download or read book Human Genetics and Genomics written by Bruce R. Korf and published by John Wiley & Sons. This book was released on 2012-11-19 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Pediatric Decision-Making Strategies E-Book

Author : Albert J. Pomeranz
Publisher : Elsevier Health Sciences
ISBN 13 : 0323353851
Total Pages : 368 pages
Book Rating : 4.3/5 (233 download)

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Book Synopsis Pediatric Decision-Making Strategies E-Book by : Albert J. Pomeranz

Download or read book Pediatric Decision-Making Strategies E-Book written by Albert J. Pomeranz and published by Elsevier Health Sciences. This book was released on 2015-01-08 with total page 368 pages. Available in PDF, EPUB and Kindle. Book excerpt: Designed to accompany Nelson Textbook of Pediatrics and Nelson Essentials of Pediatrics, Pediatric Decision-Making Strategies is a concise, user-friendly reference uses a unique algorithmic approach to facilitate diagnosis, testing, and basic treatment of common pediatric disorders. For any given symptom, an algorithm guides the reader through the appropriate investigative procedures and lab tests to reach definitive diagnoses. An updated format that enhances usability makes this medical reference book a must-have for medical students, residents, and practitioners treating pediatric patients. Explore concise, focused, and updated algorithms that cover the most common pediatric problems. Gain imperative knowledge from an expert author team that includes Dr. Robert M. Kliegman (of the Nelson line of textbooks), as well as references to related chapters in both Nelson Textbook of Pediatrics and Nelson Essentials of Pediatrics. Quickly access important information with a new standard format and trim size for practicality and usability. Consult this title on your favorite e-reader.

Autism Spectrum Disorders

Author : Stephen Deutsch
Publisher : BoD – Books on Demand
ISBN 13 : 9533074957
Total Pages : 214 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis Autism Spectrum Disorders by : Stephen Deutsch

Download or read book Autism Spectrum Disorders written by Stephen Deutsch and published by BoD – Books on Demand. This book was released on 2011-08-01 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.

Evidence-Based Evolutionary Medicine

Author : John S. Torday
Publisher : John Wiley & Sons
ISBN 13 : 1118838335
Total Pages : 248 pages
Book Rating : 4.1/5 (188 download)

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Book Synopsis Evidence-Based Evolutionary Medicine by : John S. Torday

Download or read book Evidence-Based Evolutionary Medicine written by John S. Torday and published by John Wiley & Sons. This book was released on 2018-05-03 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: A groundbreaking, evidence-based text to the growing field of evolutionary medicine Evidence-Based Evolutionary Medicine offers a comprehensive review of the burgeoning field of evolutionary medicine and explores vital topics such as evolution, ecology, and aging as they relate to mainstream medicine. The text integrates Darwinian principles and evidence-based medicine in order to offer a clear picture of the underlying principles that reflect how and why organisms have evolved on a cellular level. The authors—noted authorities in their respective fields—address evolutionary medicine from a developmental cell-molecular perspective. They explore the first principles of physiology that explain the generation of existing tissues, organs, and organ systems. The text offers an understanding of the overall biology as a vertically integrated whole, from unicellular to multicellular organisms. In addition, it addresses clinical diagnostic and therapeutic approaches, both traditional and cell-homeostatic. This groundbreaking text: • Offers a much-needed, logical, and fundamental approach to biology and medicine • Provides a clear explanation of complex physiology and pathophysiology • Integrates topics like evolution, ecology and aging into mainstream medicine, making them more relevant • Contains the first evidence-based text on evolutionary medicine Written for medical and graduate students in biology, physiology, anatomy, endocrinology, reproductive biology, medicine, pathology, systems biology, this vital resource offers a unique text of both biology as an integrated whole with universal properties; and of medicine seeing the individual as a whole, not an inventory of parts and diseases.

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

Author : Donna Cutler-Landsman
Publisher : Plural Publishing
ISBN 13 : 1635501717
Total Pages : 404 pages
Book Rating : 4.6/5 (355 download)

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Book Synopsis Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition by : Donna Cutler-Landsman

Download or read book Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition written by Donna Cutler-Landsman and published by Plural Publishing. This book was released on 2020-01-01 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements

Nelson Pediatrics Board Review E-Book

Author : Terry Dean, Jr.
Publisher : Elsevier Health Sciences
ISBN 13 : 0323547141
Total Pages : 1005 pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Nelson Pediatrics Board Review E-Book by : Terry Dean, Jr.

Download or read book Nelson Pediatrics Board Review E-Book written by Terry Dean, Jr. and published by Elsevier Health Sciences. This book was released on 2018-10-27 with total page 1005 pages. Available in PDF, EPUB and Kindle. Book excerpt: Review and retain the information you need for success on the boards with Nelson Pediatrics Board Review: Certification and Recertification. This highly practical review tool follows the American Board of Pediatrics (ABP) general pediatrics content outline, with topics weighted to correlate with the exam. Must-know information is presented in a way that’s easy to study and remember, and is backed by the Nelson family of references that you know and trust for current, authoritative information in your field. Equips residents and physicians with an efficient, comprehensive system for study, designed specifically to help you perform at your best on the board exam. Presents information in a bulleted, high-yield format, with topics matching ABP content guidelines. Provides a real-world balance of necessary fundamental information and cutting-edge advances – all carefully written and reviewed by editors and contributors from the world renowned Children’s Hospital of Philadelphia (CHOP). Features over 600 board-style questions with full, discursive answers online. Includes reader-friendly features that promote testing success: tables that show differences between diagnoses, genetic disorders grouped by key features in phenotypic presentation rather than in alphabetical order, and more – all designed to help you recall key information when taking exams. Provides online links to the Nelson Textbook of Pediatrics that offer a complete presentation of the content, including evidence-based treatment and management.

Genetic Consultations in the Newborn

Author : Robin D. Clark
Publisher : Oxford University Press
ISBN 13 : 0190931043
Total Pages : 384 pages
Book Rating : 4.1/5 (99 download)

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Book Synopsis Genetic Consultations in the Newborn by : Robin D. Clark

Download or read book Genetic Consultations in the Newborn written by Robin D. Clark and published by Oxford University Press. This book was released on 2019-01-16 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.