Human Malformations And Related Anomalies

Author : Roger E. Stevenson,Judith G. Hall
Publisher : Oxford University Press
Page : 1510 pages
File Size : 45,7 Mb
Release : 2005-10-27
Category : Medical
ISBN : 9780199748082

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Human Malformations and Related Anomalies by Roger E. Stevenson,Judith G. Hall Pdf

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.

Author : Roger E. Stevenson
Publisher : Unknown
Page : 128 pages
File Size : 51,9 Mb
Release : 2005-08
Category : Electronic
ISBN : 9780195165

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Human Malformations and Related Anomalies by Roger E. Stevenson Pdf

Author : Kenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo
Publisher : Elsevier Health Sciences
Page : 1018 pages
File Size : 40,5 Mb
Release : 2013-09-06
Category : Medical
ISBN : 9780323186681

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Smith's Recognizable Patterns of Human Malformation by Kenneth Lyons Jones,Marilyn Crandall Jones,Miguel del Campo Pdf

Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones. Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes. Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes. Available digitally for the first time! You can now access Smith’s as an eBook or online at Expert Consult.

Author : Roger E. Stevenson,Judith G. Hall,Richard Merle Goodman
Publisher : Oxford University Press, USA
Page : 300 pages
File Size : 49,9 Mb
Release : 1993
Category : Medical
ISBN : UOM:39015029478222

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Human Malformations and Related Anomalies by Roger E. Stevenson,Judith G. Hall,Richard Merle Goodman Pdf

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.

Author : Kenneth Lyons Jones
Publisher : Unknown
Page : 888 pages
File Size : 49,9 Mb
Release : 1997
Category : Health & Fitness
ISBN : UOM:39015040142179

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Smith's Recognizable Patterns of Human Malformation by Kenneth Lyons Jones Pdf

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.

Author : David W. Smith
Publisher : Unknown
Page : 368 pages
File Size : 41,6 Mb
Release : 1970
Category : Abnormalities, Human
ISBN : OCLC:223374461

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Recognizable Patterns of Human Malformation by David W. Smith Pdf

Author : David W. Smith
Publisher : Unknown
Page : 778 pages
File Size : 52,5 Mb
Release : 1988
Category : Electronic
ISBN : OCLC:610343673

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Smith's Recognizable Patterns of Human Malformation by David W. Smith Pdf

Author : William Reardon
Publisher : Unknown
Page : 0 pages
File Size : 48,6 Mb
Release : 2008
Category : Abnormalities, Human
ISBN : 0199975205

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The Bedside Dysmorphologist by William Reardon Pdf

Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.

Author : John B. Mulliken,Patricia E. Burrows,Steven J. Fishman
Publisher : Oxford University Press
Page : 1144 pages
File Size : 52,5 Mb
Release : 2013-05-01
Category : Medical
ISBN : 9780199722549

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Mulliken and Young's Vascular Anomalies by John B. Mulliken,Patricia E. Burrows,Steven J. Fishman Pdf

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.

Author : National Research Council,Commission on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Developmental Toxicology
Publisher : National Academies Press
Page : 348 pages
File Size : 48,9 Mb
Release : 2000-12-21
Category : Nature
ISBN : 9780309070867

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Scientific Frontiers in Developmental Toxicology and Risk Assessment by National Research Council,Commission on Life Sciences,Board on Environmental Studies and Toxicology,Committee on Developmental Toxicology Pdf

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.

Author : Stefania Tudorache
Publisher : BoD – Books on Demand
Page : 546 pages
File Size : 51,7 Mb
Release : 2018-05-02
Category : Medical
ISBN : 9781789231144

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Congenital Anomalies by Stefania Tudorache Pdf

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.

Author : Ellis D. Avner,William E. Harmon,Patrick Niaudet,Norishige Yoshikawa
Publisher : Springer Science & Business Media
Page : 2059 pages
File Size : 50,6 Mb
Release : 2009-08-20
Category : Medical
ISBN : 9783540763277

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Pediatric Nephrology by Ellis D. Avner,William E. Harmon,Patrick Niaudet,Norishige Yoshikawa Pdf

Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.

Author : Robert Carachi,Sameh Helmi Edward Doss
Publisher : Springer
Page : 497 pages
File Size : 48,8 Mb
Release : 2019-05-07
Category : Medical
ISBN : 9783319261584

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Clinical Embryology by Robert Carachi,Sameh Helmi Edward Doss Pdf

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.

Author : Michael Baraitser,Robin M. Winter
Publisher : Mosby Elsevier Health Science
Page : 264 pages
File Size : 41,6 Mb
Release : 1996
Category : Medical
ISBN : UOM:39015037285791

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Color Atlas of Congenital Malformation Syndromes by Michael Baraitser,Robin M. Winter Pdf

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.

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
Page : 910 pages
File Size : 47,5 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781468451559

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Genetic Disorders and the Fetus by Aubrey Milunsky Pdf

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.