Noonan Syndrome and Related Disorders

• Author : Martin Zenker
• Publisher : Karger Medical and Scientific Publishers
• Release : 17 May 2022

In this book, internationally recognized experts review the most important advances regarding the group of human developmental disorders caused by constitutive dysregulation of the Ras-MAPK signalling pathway, including Noonan, cardiofaciocutaneous, LEOPARD and Costello syndromes. A historical overview given by Jacqueline Noonan is followed by chapters dedicated to comprehensive clinical summaries of each condition and up-to-date reviews on associated gene mutations and molecular pathomechanisms. Genotypephenotype correlations are outlined. Further topics include the characterization and underlying mechanisms of common abnormalities in these

• Author : Amrit P.S. Bhangoo
• Publisher : Academic Press
• Release : 16 May 2019

Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome

• Author : Anonim
• Publisher : ScholarlyEditions
• Release : 10 December 2012

Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Noonan Syndrome in a compact format. The editors have built Noonan Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Noonan Syndrome 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

• Author : Robin M. Winter,Michael Baraitser
• Publisher : Springer
• Release : 20 December 2013

The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have

• Author : Golder N. Wilson,Golder Wilson,W. Carl Cooley
• Publisher : Cambridge University Press
• Release : 15 June 2000

CD contains copies of the checklists in the text along with additional supplementary material.

• Author : Dongyou Liu
• Publisher : CRC Press
• Release : 08 May 2020

Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility

• Author : Helga V. Toriello,Shelley D. Smith
• Publisher : Oxford University Press
• Release : 20 June 2013

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each

• Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
• Publisher : John Wiley & Sons
• Release : 27 January 2021

The most recent update to one of the most essential references on medical genetics Cassidy and Allanson's Management of Genetic Syndromes, 4th 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 for students, clinicians, and researchers in the field of medical genetics. The 4th edition includes current information on the identification of genetic syndromes (including newly

• Author : Peter C. Hindmarsh
• Publisher : Karger Medical and Scientific Publishers
• Release : 17 May 1999

Breaking new ground in terms of scientific analysis, this book addresses the question of who benefits most from treatment with recombinant human growth hormone. Outlined at the beginning of this book are the principles of evidence-based medicine along with a critical appraisal of the statistical issues that lie at the center of growth hormone trials. Each chapter reviews the current state of knowledge on the use of growth hormone in conditions ranging from Turner syndrome through other syndromes of intrauterine

• Author : Sally Radovick,Madhusmita Misra
• Publisher : Springer
• Release : 11 April 2018

A state-of-the-art and concise resource presenting the clinical management of pediatric endocrine diseases and disorders, this third edition of the highly regarded textbook covers the most common and challenging conditions seen by practicing endocrinologists and primary care physicians, including growth, hypothalamic, pituitary, adrenal, thyroid, calcium and bone, and reproductive disorders, as well as metabolic syndromes. This expanded third edition includes new topics such as conditions of overgrowth, low bone density and its management, endocrine issues related to sexual identity, mineralocorticoid

• Author : Lawrence F. Eichenfield,Ilona J. Frieden,Erin Mathes,Andrea Zaenglein,Nancy B. Esterly
• Publisher : Elsevier Health Sciences
• Release : 20 December 2007

Comprehensive and heavily illustrated, this is a unique reference for anyone involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. In addition to over 500 superb photographs of normal and abnormal skin conditions, this latest edition also includes new algorithms, new tables, and new care plans. Simple to use text and tables for reference during daily practice. Comprehensive information on infant skin care and toxicology. Differential diagnosis aided by lists, text and images. Assists with work-up and

• Author : Michael Artman,D. Woodrow Benson,Deepak Srivastava,Makoto Nakazawa
• Publisher : John Wiley & Sons
• Release : 15 April 2008

Congenital cardiovascular malformations are the single most common form of birth defect. Therefore a better understanding of the mechanisms involved in both normal cardiac development and the formation of cardiovascular structural defects is of tremendous importance. This book brings together the leading scientists from around the world who are actively engaged in studies of the etiology, morphogenesis and physiology of congenital cardiovascular diseases. A broad variety of approaches, techniques, experimental models and studies of human genetics combine to make this

• Author : Kenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo
• Publisher : Elsevier Health Sciences
• Release : 02 March 2021

Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone

• Author : Jean-Claude Carel,Z. Hochberg
• Publisher : Karger Medical and Scientific Publishers
• Release : 01 January 2008

The body of knowledge in most medical specialties is rapidly expanding, making it virtually impossible to follow all advances in clinical and basic sciences that are relevant to a given field. This is particularly true in pediatric endocrinology, at the cross-road of pediatrics, endocrinology, development and genetics.The 'Yearbook of Pediatric Endocrinology 2008' brings you abstracts of articles that reported the year's breakthrough developments in the basic sciences and evidence-based new knowledge in clinical research and clinical practice that are

• Author : Diego F. Wyszynski,Adolfo Correa-Villaseñor
• Publisher : Oxford University Press, USA
• Release : 17 May 2022

"Covering all aspects of CHDs, the chapters include important discussions on development, epidemiology, genetics, diagnosis, management, and prevention of these birth defects, as well as coverage of public health issues such as environmental risk factors and healthcare costs related to CHDs. This book will be of interest to geneticists, epidemiologists, cardiologists, pediatricians, graduate students, researchers, and others interested in the treatment of individuals' with CHDs." --Book Jacket.