Fetal And Perinatal Skeletal Dysplasias
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| Author | : Christine M Hall |
| Publisher | : CRC Press |
| Total Pages | : 1282 |
| Release | : 2024-07-30 |
| Genre | : Medical |
| ISBN | : 1040005233 |
This atlas is intended to give obstetricians, paediatricians, neonatologists, radiologists, molecular and clinical geneticists and anatomo-pathologists, a thorough insight into conditions (and variants) of skeletal dysplasias. Clinical and imaging findings are properly illustrated, enriched by updated genetic information. This acclaimed text returns in a revised form, with updated material, particularly on the new knowledge surrounding the genetic basis and mechanism for the various skeletal dysplasias. No clinician dealing with fetal or neonatal skeletal diagnosis or treatment will want to be without access to the wealth of illustrations and detail condensed here. Presents a clear and consistent rubric for approaching approximately 150 types of skeletal dysplasias Meets the needs of clinical gynaecologists, obstetricians, paediatricians, radiologists and geneticists Offers an essential, concise resource for the diagnosis of skeletal dysplasias which present prenatally and perinatally
| Author | : Bidyut Kumar |
| Publisher | : Cambridge University Press |
| Total Pages | : 383 |
| Release | : 2016-04-07 |
| Genre | : Health & Fitness |
| ISBN | : 1107064341 |
Based on the RCOG Training Module in Fetal Medicine, this book provides a knowledge base for practitioners in obstetrics and maternal-fetal medicine.
| Author | : Jürgen W. Spranger |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 929 |
| Release | : 2018 |
| Genre | : Medical |
| ISBN | : 0190626658 |
The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
| Author | : Christine M Hall |
| Publisher | : CRC Press |
| Total Pages | : 840 |
| Release | : 2012-09-30 |
| Genre | : Medical |
| ISBN | : 131534629X |
Skeletal dysplasias are rare, they may be genetic, sporadic or environmentally determined conditions, affecting bone and cartilage growth and development. The genetic mutations continue to exert their influence throughout the life of the affected individual. This unique, full colour atlas features 132 conditions with 2300 images of over 500 patients. It brings together the wide-ranging clinical disciplines involved in pre and postnatal care and diagnosis and presents perinatal images of rare skeletal disorders to include skeletal dysplasias and malformation syndromes on a case-by-case basis. It presents the most up-to-date information on the individual conditions to include the mode of inheritance (autosomal dominant or recessive, or non-genetic), the Mendelian Inheritance in Man number (MIM) for further reference reading, the locus (the chromosome number and position on the affected chromosome), the mutated gene and the affected protein. Each condition has a brief summary including synonyms, incidence, genetics, age at presentation, clinical, prenatal ultrasound and postnatal radiological features, bone histology, prognosis and differential diagnosis. Images are presented with each case illustrating different imaging modalities and with gross and/or histopathology findings. Brief clinical findings are also given where available. It is of great value to all clinicians and technicians working in fetal medicine and neonatal care. It greatly assists in diagnostic accuracy and provides clinicians and affected families with the information needed to make informed management decisions.
| Author | : Aubrey Milunsky |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 718 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 1468434381 |
Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
| Author | : Ralph S. Lachman |
| Publisher | : Mosby |
| Total Pages | : 0 |
| Release | : 2007 |
| Genre | : Bones |
| ISBN | : 9780323019316 |
"Revised to reflect the latest advances, the 5th edition of this book: brings you new and expanded coverage of CT, MRI, and ultrasonographic manifestations; provides several illustrative examples of the evolution of a syndrome from infancy to adult life; includes more than 100 new skeletal dysplasias, covering everything from their frequency and clinical and radiological manifestations ... to modes of inheritance and differential diagnosis; presents genetic information on syndromes and disorders, while also covering a number of non-genetic entities; features an expanded Chromosome disorders section that includes guidance on when to test for these conditions; includes a section on Gamuts that helps you look up conditions based on individual traits; and offers an updated Brachydactyly section for the latest guidance in addressing these isolated disorders." "Short, concise descriptions of entities help you glean the most information in the least time, and an alphabetical organization expedites access to the specific information you need for common and uncommon conditions."--Résumé de l'éditeur.
| Author | : Hooshang Taybi |
| Publisher | : Mosby Incorporated |
| Total Pages | : 1135 |
| Release | : 1996 |
| Genre | : Medical |
| ISBN | : 9780815187097 |
Intended for the practitioner and student, this clinical radiologic reference is one of the most widely used by pediatric radiologists today. This edition features an expanded Gamuts section, which presents differential diagnoses of various clinical and radiologic symptoms and signs. Genetic information on syndromes and disorders is also included.
| Author | : Errol R. Norwitz |
| Publisher | : John Wiley & Sons |
| Total Pages | : 646 |
| Release | : 2019-02-26 |
| Genre | : Medical |
| ISBN | : 1444334336 |
The most comprehensive evidence-based guide to both obstetrics and gynecology Aimed at practicing obstetricians, gynecologists, and trainees in the specialty, Evidence-based Obstetrics and Gynecology concentrates on the clinical practice areas of diagnosis, investigation and management. The first section of the book discusses evidence-based medicine methodology in the context of the two specialties. The second and third sections cover all the major conditions in obstetrics and gynecology, with each chapter reviewing the best available evidence for management of the particular condition. The chapters are structured in line with EBM methodology, meaning the cases generate the relevant clinical questions. Evidence-based Obstetrics and Gynecology provides in-depth chapter coverage of abnormal vaginal bleeding; ectopic pregnancy; pelvic pain; lower genital tract infections; contraception and sterilization; breast diseases; urogynecology; endocrinology and infertility; puberty and precocious puberty; cervical dysplasia and HPV; cervical, vaginal, vulvar, uterine, and ovarian cancer; preconception care; prenatal care and diagnosis; drugs and medications in pregnancy; maternal complications; chronic hypertension; diabetes mellitus; thyroid disease; neurologic disease; psychiatric disease; postterm pregnancy; fetal complications; preeclampsia; and more. First book to address evidence-based practice for obstetrics and gynecology combined EBM is a highly relevant approach for this high risk specialty Edited by leading US specialist involved in the evidence-based medicine movement Evidence-Based Obstetrics and Gynecology is an important text for obstetricians and gynecologists in practice and in training, as well as for specialist nurses.
| Author | : Christoph Lees |
| Publisher | : Cambridge University Press |
| Total Pages | : 300 |
| Release | : 2018-03-31 |
| Genre | : Medical |
| ISBN | : 1108548180 |
Master the effective evaluation, analysis and management of placental-fetal growth restriction (PFGR), reducing the risk of perinatal mortality and morbidity in patients worldwide. Extensively researched by international experts, this manual provides practitioners with a detailed, hands-on approach to the practical 'pearls' for direct patient management. This authoritative volume advises on matters such as the correct evaluation and management of high-risk patients in danger of PFGR through to delivery. Extensive and wide-ranging, this book is an invaluable companion to the developing research interest and clinical applications in PFGR, including developmental outcomes in early childhood. Featuring a critical evaluation of a variety of abnormal conditions, such as fetal hypoxia, which are clearly displayed through extensive illustrations. This essential toolkit ensures that practitioners of all levels can effectively limit the risk of mortality and morbidity, and reach the correct diagnosis, first-time.
| Author | : Francis H. Glorieux |
| Publisher | : Academic Press |
| Total Pages | : 885 |
| Release | : 2011-09-28 |
| Genre | : Medical |
| ISBN | : 0123820405 |
Pediatric osteology, a medical specialty that has come of age, has contributed to the understanding of adult bone diseases as well. This second edition reference updates the 2003 edition with more emphasis on management as well as new and revised contributions. Thirty chapters present basic information regarding bone development, tools and techniques for evaluation (including a new chapter on radiographic imaging), and the specifics of various diseases. The three editors are affiliated as follows: Francis H. Glorieux (McGill U., Canada), John M. Pettifor (Chir Hani Baragwanath Hospital, South Africa), and Harald Juppner (Harvard Medical School, US). Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com).
