Arthrogryposis
Arthrogryposis

Author: Lynn T. Staheli

Publisher: Cambridge University Press

Published: 1998-04-28

Total Pages: 298

ISBN-13: 9780521571067

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The term arthrogryposis describes a range of congenital contractures that lead to childhood deformities. It encompasses a number of syndromes and sporadic deformities that are rare individually but collectively are not uncommon. Yet, the existing medical literature on arthrogryposis is sparse and often confusing. The aim of this book is to provide individuals affected with arthrogryposis, their families, and health care professionals with a helpful guide to better understand the condition and its therapy. With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. The book is authored primarily by members of the medical staff of the Arthrogryposis Clinic at Children's Hospital and Medical Center in Seattle, Washington, one of the leading teams in the management of the condition, and will be an invaluable resource for both health care professionals and families of affected individuals.

Perinatal Neuropathology
Perinatal Neuropathology

Author: Mirna Lechpammer

Publisher:

Published: 2021

Total Pages:

ISBN-13: 9781316671863

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"1 Clinical history, clinical correlations with placental pathology and prematurity The initial steps in the process of perinatal nervous system evaluation, namely the planning of the optimal approach and choice of samples to be obtained, are driven by the clinical context. Of key importance are the following data: a. Gestational age at time of demise (if stillborn); or gestational age and postnatal age (if liveborn), for comparison with normative standards of development (see Appendix); b. State of maternal health (age, parity, pre-existing medical conditions or ones appearing during gestation or around the time of delivery, exposure to medications/toxins/infections), and of health of siblings or other family members: - Concerns for inherited (i.e., genetic) conditions, metabolic disorders, congenital infections, etc., may indicate the need for special testing; c. Details of prenatal course, including any imaging, amniocentesis, or monitoring: - Prenatal imaging modalities most commonly consist of transabdominal ultrasonography, generally done at the time of the first prenatal visit (to confirm pregnancy) or more usually in the mid-second-trimester for detection of fetal or placental anomalies"--

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.

Syndromes: Rapid Recognition and Perioperative Implications
Syndromes: Rapid Recognition and Perioperative Implications

Author: Bruno Bissonnette

Publisher: McGraw-Hill Education / Medical

Published: 2006-08-10

Total Pages: 988

ISBN-13:

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Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition
Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition

Author:

Publisher: ScholarlyEditions

Published: 2012-01-09

Total Pages: 18

ISBN-13: 1464917477

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Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Arthrogryposis in a compact format. The editors have built Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Arthrogryposis in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Arthrogryposis: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Pediatric Lower Limb Deformities
Pediatric Lower Limb Deformities

Author: Sanjeev Sabharwal

Publisher: Springer

Published: 2015-11-02

Total Pages: 644

ISBN-13: 331917097X

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Comprehensive and generously illustrated, this text highlights both general principles and specific strategies for managing the spectrum of pediatric lower limb deformities. It is divided thematically into five sections, though any chapter can stand on its own to guide the clinician in specific situations. Part I covers general principles and techniques, including etiology, clinical evaluation, imaging as well as different surgical methods. Part II, covering related concepts and management options, discusses soft tissue contractures, amputations and working in austere and resource-challenged settings. Underlying conditions comprise part III – specific metabolic, neuromuscular and tumor-related conditions, along with arthrogryposis, Osteogenesis Imperfecta and various skeletal dysplasias. Part IV presents congenital and developmental disorders, such as congenital femoral deficiency, hemimelias, tibial pseudoarthrosis and Blount disease, while part V rounds out the book with chapters on sequelae related to different etiologies and their treatment. Covering all aspects of the management of pediatric lower limb deformities and written by renowned experts in the field, this textbook will be an invaluable resource for orthopedic surgeons and trainees worldwide.

Neuromuscular Disorders of Infancy, Childhood, and Adolescence
Neuromuscular Disorders of Infancy, Childhood, and Adolescence

Author: Basil T. Darras

Publisher: Elsevier

Published: 2014-12-03

Total Pages: 1156

ISBN-13: 0124171273

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Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. - Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. - Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. - Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry

The Pediatric Upper Extremity
The Pediatric Upper Extremity

Author: Joshua M. Abzug

Publisher: Springer

Published: 2014-11-22

Total Pages: 0

ISBN-13: 9781461485131

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Sub-specialization within pediatric orthopedics is growing, in part due to the development of free-standing children's hospitals and the desire by patients and their parents to have "experts" care for them. We are at the forefront of a trend in physicians classifying themselves as pediatric upper extremity surgeons. Numerous pediatric hospitals now have or are recruiting physicians to focus their practice in this area. Historically, these issues were treated by general orthopedic surgeons, adult hand surgeons, pediatric orthopedic surgeons, or plastic surgeons. However, none of these professionals treat the entirety of pediatric upper extremity pathology, and no single reference has focused on the treatment of the pediatric upper extremity as a whole. For example, fractures have typically been written about in pediatric textbooks, while tendon and nerve injuries are covered in adult hand textbooks. This textbook is a comprehensive, illustrated reference that discusses all aspects of the pediatric upper extremity, from embryology and functional development to nerve injuries, trauma, tumors, burns, sports injuries and more.

Deformed
Deformed

Author: Valerie Pepe

Publisher:

Published: 2020-09-30

Total Pages: 146

ISBN-13: 9781735846002

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In this sequel to Deformed: My Remarkable Life (Mediacs, 2016), Valerie Pepe updates the inspirational story of a woman's struggle to overcome a crippling birth defect in pursuit of a "normal" home and work life. Picking up where her first memoir left off, Valerie takes the reader on a heartfelt journey into middle age; the loss of family members, including her dad; a new and deeper love affair, and volunteer work to help the victims of Hurricane Sandy and others who like her were born with the joint contractures and abnormal muscle fibrosis of Arthrogryposis Multiplex Congenita (AMC). Born and raised in Staten Island's Italian-American community, Valerie Pepe has written a sequel that once again stands as a shining example of how a strong and independent person with a severe physical disability can refuse to be marginalized.