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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.
Fifty-two authorities have collaborated to produce Human Malformations, a new reference work on birth defects. The coverage is encyclopedic in scope, including all significant human anomalies. Written for physicians and surgeons who evaluate and treat infants and children with birth defects, this work will also serve as a useful resource to all students of human development. This work is divided into two volumes. Volume I contains 15 chapters dealing with the evaluation and understanding of birth defects. Contributors from embryology, experimental teratology, anthropology, genetics, and the medical specialties combine to give a broad perspective. The history of concepts about malformations is discussed, as well as contemporary principles and practice. Volume II (37 chapters) gives detailed accounts of human anomalies arranged by anatomical systems. Each section has the same well-organized format, permitting the reader to easily find information on the incidence, diagnosis, pathogenesis, and causes of human anomalies. The occurrence of each anomaly in various associations and syndromes is documented, often in table form. Each chapter concludes with the natural history, approaches to treatment, and prevention strategies. These two volumes are generously illustrated with 850 photographs, anatomical drawings, and radiographs. Over 8,000 references are cited to permit the reader ready access to the sources of information used to produce this text. Together, the text, illustrations, and bibliographics provide readers with a uniquely valuable and comprehensive resource on human birth defects.
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.
The field of vascular anomalies has grown rapidly in last 25 years. Molecular genetics has led to discovery of genes that cause vascular anomalies. Interventional radiology has become a major contributor to accurate diagnosis and management of previously untreatable disorders. New pharmacologic therapies are under investigation and surgical protocols have been established. Vascular Anomalies: Hemangiomas and Malformations is a comprehensive and interdisciplinary textbook ideal for dermatologists, interventional radiologists, surgical specialists, ophthalmologists, pathologists, geneticists, pediatricians, hematologic-oncologists, and vascular biologists. With a central motif of the biologic dichotomy of vascular tumors and vascular malformations, this book is organized into chapters which address clinical presentation, diagnostic imaging, molecular genetics, pathogenesis, histopathology, and management of vascular anomalies. Generous, full-color images compliment this extensive volume written by three colleagues and their teammates from Children's Hospital Boston and Harvard Medical School, with leading specialists from other centers.
Scientific Frontiers in Developmental Toxicology and Risk Assessment reviews advances made during the last 10-15 years in fields such as developmental biology, molecular biology, and genetics. It describes a novel approach for how these advances might be used in combination with existing methodologies to further the understanding of mechanisms of developmental toxicity, to improve the assessment of chemicals for their ability to cause developmental toxicity, and to improve risk assessment for developmental defects. For example, based on the recent advances, even the smallest, simplest laboratory animals such as the fruit fly, roundworm, and zebrafish might be able to serve as developmental toxicological models for human biological systems. Use of such organisms might allow for rapid and inexpensive testing of large numbers of chemicals for their potential to cause developmental toxicity; presently, there are little or no developmental toxicity data available for the majority of natural and manufactured chemicals in use. This new approach to developmental toxicology and risk assessment will require simultaneous research on several fronts by experts from multiple scientific disciplines, including developmental toxicologists, developmental biologists, geneticists, epidemiologists, and biostatisticians.
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
This comprehensive atlas is unique in combining information on the embryological development of the human with detailed presentation of the congenital malformations encountered in clinical practice. As a consequence it will not only assist practitioners and trainees in recognizing and evaluating malformations, but also enable them to understand how a malformation has developed and to explain the mystery of congenital malformations to relatives and patients. The book is organized according to anatomic region, with additional chapters on hernias, tumors, lymphogenesis and lymphatic malformations. According to WHO statistics, each year congenital anomalies result in approximately 3.2 million birth defect-related disabilities worldwide. All too often, however, training in embryology is now a neglected area, and medical graduates frequently lack confidence in their knowledge of the field. Clinical Embryology: An Atlas of Congenital Malformations will help to rectify this deficit and to ensure that malformations are comprehended and managed appropriately. It will be of value for postgraduate trainees in pediatric surgery, pediatrics, and neonatology, undergraduate medical students, and general practitioners/family physicians.
Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.
This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.