The vast amount of genetic research has added to the list of clinically recognized syndromes, identification of which can cause enormous problems for those non-specialist geneticists. This book provides a colour atlas, covering these syndromes. The concise, authoritative text is combined with over 900 full-colour illustrations, providing a visual aid in the pattern recognition of clinical features.
As patients live longer and need to be treated over the long term and the management of pediatric cardiology problems and congenital heart disease moves more into the mainstream, turn to Pediatric Cardiology for current clinical guidance. Trust Dr. Robert Anderson, godfather of cardiac morphology, to bring you coverage of potential cardiovascular anomalies, all potential diseases related to anomalies or developmental problems, and methods for management and treatment. New contributors from all over the world-including 70% new to this edition-present the latest challenges in the field and emphasize the adolescent and post-operative outcomes for management. Now, in full color, this leading reference offers you everything you need to treat and manage pediatric heart conditions. A comprehensive and exhaustive reference of fundamental and clinical aspects of heart disease in infancy and childhood. The contributors are well-known experts in the field and the editors are a world class group who have published extensively in the field. Emphasizes the treatment of corrected congenital heart disease for coverage of the clinical management of cardiac problems in the adolescent and young adult. Integrates development in chapters on lesions to make physiology clinically relevant for the specific cardiac lesions. Provides the latest clinical perspectives on neonate cardiac development management issues so you can offer the best long-term care. Presents the contributions of 70% new authors, from all over the world, in a consistent format to make referencing global perspectives quick and easy. Captures the nuances of the anatomical structure of lesions through full-color illustrations depicting morphologic, congenital, and surgically corrected examples for exceptional visual guidance.
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
This volume is a practical resource for the diagnosis and multi-disciplinary management of patients with vascular anomalies. Although designed by and for hematologists and oncologists, this text also assists clinicians in many specialties with appropriate nomenclature, diagnosis, and management of the heterogeneous disorders considered as vascular anomalies, including kaposiform hemangioendothelioma, capillary malformations, venous malformations, lymphatic anomalies, and arteriovenous malformation. The book features full-color clinical photographs and diagnostic imaging to enrich descriptions of these conditions and to ensure accurate diagnosis for appropriate management recommendations. Written by experts in their fields, Vascular Anomalies: A Guide for the Hematologist/Oncologist is a valuable resource for clinicians treating and researchers studying patients with vascular anomalies.
Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.
The massive convergence of information about cavernous malformations has been synthesized in this volume by experts in the field of pathology, neuroradiology and neurosurgery. Cavernous Malformations represents state-of-the-art knowledge about this lesion and the spectrum of opinion about its nature, clinical behavior and management strategies. Highlights of Cavernous Malformations: Definition and pathologic features Epidemiology Diagnostic imaging Epilepsy Hemorrhage Conservative management Surgical intervention Microsurgical treatments Spinal cavernous malformations Pediatrics Radiotherapy (Distributed by Thieme for the American Association of Neurological Surgeons)
This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
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.
Dr. Perloff, the founding father of the field of adult congenital heart disease, presents a decade's worth of research and clinical data in the completely redefined 3rd edition to bring you the most current information. With advances in diagnosis and treatment in children, more and more of those with CHD survive well into adulthood. Expert contributors in various fields offer a multi-disciplinary, multi-system approach to treatment so you get comprehensive coverage on all aspects of the subspecialty, including basic unoperated malformations, medical and surgical perspectives, postoperative residue, and sequelae. As someone who treats these patients, you need to be ready to provide the continual care they require. Conveys a multidisciplinary, multi-system approach to the lifelong care of adult CHD patients to put treatment in a broader context. Presents information in a consistent, logical style so the information you need is easy to find and apply. Supplements the text with 600 clear conceptual illustrations to clarify difficult concepts. Features completely rewritten chapters to include the latest developments in the field-such as major advances in surgical and interventional techniques-and the various needs of patients with adult CHD. Incorporates recently published trials such as those involving cyanotic CHD and atherogenesis, coronary microcirculation, and pathogenesis of thrombocytopenia to supplement the chapter on cyanotic CHD. Emphasizes advances in imaging in a new section-edited by an expert-that covers echocardiography as well as specialized imaging techniques. Illustrates the full range of advances in the field with 600 images that reflect the latest progress. Includes new chapters-Global Scope of ACHD; Cardiac Transplantation; Electrophysiologic Abnormalities in Unoperated Patients and Residue and Sequelae After Cardiac Surgery-to provide you with the latest information on the growth of the subspecialty and its effect on treatment. Presents revisions by a new authorship of experts in infectious disease, genetics and epidemiology, sports medicine, neurology, cardiac surgery, cardiac anesthesiology, and more.
