Multiple Congenital Anomalies

Author : Robin M. Winter,Michael Baraitser
Publisher : Springer
Page : 1441 pages
File Size : 46,7 Mb
Release : 2013-12-20
Category : Medical
ISBN : 9781489931092

Get Book

Multiple Congenital Anomalies by Robin M. Winter,Michael Baraitser Pdf

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 multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.

Author : Tricia Lacy Gomella,M. Douglas Cunningham,Fabien Gabriel Eyal
Publisher : McGraw-Hill/Appleton & Lange
Page : 613 pages
File Size : 50,9 Mb
Release : 1992
Category : Infants (Newborn)
ISBN : 0838512844

Get Book

Neonatology by Tricia Lacy Gomella,M. Douglas Cunningham,Fabien Gabriel Eyal Pdf

Author : Endre Czeizel,L. Telegdi,Gábor Tusnády
Publisher : Unknown
Page : 474 pages
File Size : 51,9 Mb
Release : 1988
Category : Abnormalities, Human
ISBN : UCLA:L0059144345

Get Book

Multiple Congenital Abnormalities by Endre Czeizel,L. Telegdi,Gábor Tusnády Pdf

Author : Haile T. Debas,Peter Donkor,Atul Gawande,Dean T. Jamison,Margaret E. Kruk,Charles N. Mock
Publisher : World Bank Publications
Page : 442 pages
File Size : 47,9 Mb
Release : 2015-03-23
Category : Medical
ISBN : 9781464803673

Get Book

Disease Control Priorities, Third Edition (Volume 1) by Haile T. Debas,Peter Donkor,Atul Gawande,Dean T. Jamison,Margaret E. Kruk,Charles N. Mock Pdf

Essential Surgery is part of a nine volume series for Disease Control Priorities which focuses on health interventions intended to reduce morbidity and mortality. The Essential Surgery volume focuses on four key aspects including global financial responsibility, emergency procedures, essential services organization and cost analysis.

Author : Stefania Tudorache
Publisher : BoD – Books on Demand
Page : 546 pages
File Size : 52,5 Mb
Release : 2018-05-02
Category : Medical
ISBN : 9781789231144

Get Book

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 : Dara Brodsky,Camilia Martin
Publisher : Unknown
Page : 442 pages
File Size : 47,9 Mb
Release : 2003
Category : Neonatology
ISBN : UCSD:31822032067159

Get Book

Neonatology Review by Dara Brodsky,Camilia Martin Pdf

This valuable review book provides a thorough framework for the basic principles of neonatology in a clear and user-friendly style. The detailed yet focused outline format makes it the perfect book for those in training in neonatology and those studying for the Neonatology Boards, as well as a useful general reference for professionals in the field. The first comprehensive guide for the neonatal/perinatal board exam Provides a thorough framework for the basic principles of neonatology The outline format is supplemented with tables, lists, and illustrations for easy study and recall

Author : Rita P. Verma
Publisher : BoD – Books on Demand
Page : 228 pages
File Size : 55,7 Mb
Release : 2021-09-15
Category : Medical
ISBN : 9781839629884

Get Book

Congenital Anomalies in Newborn Infants by Rita P. Verma Pdf

Congenital anomalies constitute a large group of diverse biochemical, histological, and anatomical defects presenting at birth and caused by a myriad of inherently unrelated etiopathogenic factors. A significant number of cases are idiopathic. With striking variability in clinical manifestation, the outcomes range from inconsequential to lethal, with immense medical, social, emotional, and financial implications. The principles of management vary from medical, surgical, none, or both, and the surgical procedures can be lifesaving or merely cosmetic. This book discusses the epidemiology, etiopathogenesis, recurrence risk, and specific clinical and investigational evaluation of congenital malformations. In addition, the book reviews the embryology, anatomy, pathophysiology, and updated management concepts of some of the most complex and intriguing anomalies of the major organ systems.

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 : 51,6 Mb
Release : 2000-12-21
Category : Nature
ISBN : 9780309070867

Get Book

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 : Jane Meschan Foy
Publisher : Unknown
Page : 0 pages
File Size : 45,7 Mb
Release : 2016-03-31
Category : Children
ISBN : 1581109660

Get Book

American Academy of Pediatrics Textbook of Pediatric Care by Jane Meschan Foy Pdf

The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.

Author : Meyer Michael Cohen
Publisher : Unknown
Page : 296 pages
File Size : 41,7 Mb
Release : 1997
Category : Medical
ISBN : UOM:39015040648886

Get Book

The Child with Multiple Birth Defects by Meyer Michael Cohen Pdf

A medical genetics book which came into existence because of the lack of literature on multiple congenital anomaly syndromes, this study incorporates an approach to the patient with multiple anomalies. It deals with the underpinnings of the field of syndromology. Designed for students,residents, fellows, and physicians with an interest in syndromology, this book assumes some general understanding of the rudiments of both medicine and genetics. The author emphasizes the conceptual aspects of syndromology rather than provide an encyclopaedic treatment on specific syndromes -- atopic covered extensively in other textbooks. Since 1982, when the first edition of this monograph came out, the field has advanced dramatically. That is why Cohen has rewritten the entire book, and added new chapters on genetics, teratogens, and facial dysmorphology.

Author : Institute of Medicine,Board on Global Health,Committee on Improving Birth Outcomes
Publisher : National Academies Press
Page : 270 pages
File Size : 44,9 Mb
Release : 2003-10-27
Category : Medical
ISBN : 9780309166836

Get Book

Reducing Birth Defects by Institute of Medicine,Board on Global Health,Committee on Improving Birth Outcomes Pdf

Each year more than 4 million children are born with birth defects. This book highlights the unprecedented opportunity to improve the lives of children and families in developing countries by preventing some birth defects and reducing the consequences of others. A number of developing countries with more comprehensive health care systems are making significant progress in the prevention and care of birth defects. In many other developing countries, however, policymakers have limited knowledge of the negative impact of birth defects and are largely unaware of the affordable and effective interventions available to reduce the impact of certain conditions. Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.

Author : Mary Ellen McCann,Christine Greco,Kai Matthes
Publisher : Cambridge University Press
Page : 465 pages
File Size : 41,7 Mb
Release : 2018-02-22
Category : Medical
ISBN : 9781107069770

Get Book

Essentials of Anesthesia for Infants and Neonates by Mary Ellen McCann,Christine Greco,Kai Matthes Pdf

A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.

Author : Dario Paladini,Paolo Volpe
Publisher : CRC Press
Page : 515 pages
File Size : 40,6 Mb
Release : 2018-03-29
Category : Medical
ISBN : 9781466598973

Get Book

Ultrasound of Congenital Fetal Anomalies by Dario Paladini,Paolo Volpe Pdf

The most frequently asked questions that confront the fetal medicine trainee/expert on a daily basis are “Is the finding real or merely an artifact?” and “Is the diagnosis correct?”. However, to be able to find the description of an abnormal ultrasound finding in a textbook, one generally has to search by the definite diagnosis, which has not been done as yet. This uneasy feeling was the first factor that directed the layout of Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition. Copiously illustrated, the book displays fetal anomalies by scanning view and descriptions of all major ultrasound planes, detailing what can be considered a normal view and what cannot. See What’s New in the Second Edition: Early detection of fetal anomalies (1214 weeks) Ultrasound in fetal infections and in twins The nuchal translucency issue, the newest intracranial translucency as well as the range of congenital anomalies detectable at this gestational age Expanded coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author’s mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh all the way through to final diagnosis.

Author : David Sutton,Jeremy W.R. Young
Publisher : Springer Science & Business Media
Page : 838 pages
File Size : 42,9 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781447117551

Get Book

A Short Textbook of Clinical Imaging by David Sutton,Jeremy W.R. Young Pdf

In recent decades imaging has proved one of the most rapidly expanding areas of medicine. The present day trainees entering radiology are no longer trained by radiologists who cover and are well informed on most aspects of their specialty as was the case with previous generations. Instead they encounter a confusing array of subspecialists divided both by systems and by techniques. The system specialists include neuroradiologists. vascular radiologists. gastrointestinal radiologists. chest radiologists. and skeletal radiologists. Technique specialists include experts in nuclear medicine. ultrasound. computed tomography and magnetic resonance. and there are subspecialists in both groups. not to mention others like pediatric radiologists who fit into neither classification. It is our experience that this plethora of experts each with his own individual approach is bewildering and intimidating to the novice radiologist. The numerous monographs on individual subjects and tech niques and the large textbooks so valuable to the more advanced radiologist are also confusing and unhelp ful to the new recruit. It was for these reasons that we decided to embark on this new Short Textbook. The aim was to produce a concise and integrated volume which could provide the beginner with a balanced and realistic view of the true place of different imaging techniques in current practice. Details of technique are generally excluded; most will be inevitably absorbed with increasing practical experience. The emphasis throughout is on clinical usage. and the relative and often changing importance of different methods in specific clinical contexts.

Author : Alan H. Jobe,Jeffrey A. Whitsett,Steven H. Abman
Publisher : Cambridge University Press
Page : 128 pages
File Size : 55,5 Mb
Release : 2016-04-18
Category : Medical
ISBN : 9781316665176

Get Book

Fetal and Neonatal Lung Development by Alan H. Jobe,Jeffrey A. Whitsett,Steven H. Abman Pdf

Lung disease affects more than 600 million people worldwide. While some of these lung diseases have an obvious developmental component, there is growing appreciation that processes and pathways critical for normal lung development are also important for postnatal tissue homeostasis and are dysregulated in lung disease. This book provides an authoritative review of fetal and neonatal lung development and is designed to provide a diverse group of scientists, spanning the basic to clinical research spectrum, with the latest developments on the cellular and molecular mechanisms of normal lung development and injury-repair processes, and how they are dysregulated in disease. The book covers genetics, omics, and systems biology as well as new imaging techniques that are transforming studies of lung development. The reader will learn where the field of lung development has been, where it is presently, and where it is going in order to improve outcomes for patients with common and rare lung diseases.