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Fetal and Perinatal Skeletal Dysplasias

Fetal and Perinatal Skeletal Dysplasias PDF Author: Christine M Hall
Publisher: CRC Press
ISBN: 1040005233
Category : Medical
Languages : en
Pages : 1282

Book Description
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

Fetal and Perinatal Skeletal Dysplasias

Fetal and Perinatal Skeletal Dysplasias PDF Author: Christine M Hall
Publisher: CRC Press
ISBN: 1040005233
Category : Medical
Languages : en
Pages : 1282

Book Description
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

Fetal and Perinatal Skeletal Dysplasias

Fetal and Perinatal Skeletal Dysplasias PDF Author: Christine Hall
Publisher: CRC Press
ISBN: 131534629X
Category : Medical
Languages : en
Pages : 840

Book Description
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.

Fetal Medicine

Fetal Medicine PDF Author: Zarko Alfirevic
Publisher: Cambridge University Press
ISBN: 1009034960
Category : Medical
Languages : en
Pages : 521

Book Description
Evidence-based clinical guidelines are designed to provide systematically developed recommendations to assist clinicians and their patients in making decisions about appropriate treatment for specific conditions. While these may often be widely available, nowhere are they collated into a single, practical text. This book will fill this need for those working in maternal-fetal medicine, comprehensively covering the conditions, diagnostic and therapeutic challenges faced by those working in fetal care. Presented in highly illustrated, algorithm format with fetograms and autopsy correlations included, this book will aid in the diagnosis, investigation, counselling and therapeutic options for the management of fetal abnormalities and disorders.

In Utero Diagnosis of Skeletal Disorders An Atlas of Prenatal Sonographic and Postnatal Radiologic Correlation

In Utero Diagnosis of Skeletal Disorders An Atlas of Prenatal Sonographic and Postnatal Radiologic Correlation PDF Author: Jacob Bar-Ziv
Publisher: Taylor & Francis
ISBN: 1351439030
Category : Medical
Languages : en
Pages : 308

Book Description
In Utero Diagnosis of Skeletal Disorders is a unique compendium of current information and 350 original ultrasound images covering the physiology and pathophysiology of osteogenesis. Syndromes are presented schematically and describe the mode of inheritance, definition and morphology, sonographic and radiologic manifestations, and associated malformations. The book is an excellent reference for obstetricians, sonographers, radiologists, and anyone dealing with the early detection of fetal malformations.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus PDF Author: Aubrey Milunsky
Publisher: Springer Science & Business Media
ISBN: 1468451553
Category : Medical
Languages : en
Pages : 910

Book Description
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.

Bone Dysplasias

Bone Dysplasias PDF Author: Jürgen W. Spranger
Publisher: Oxford University Press
ISBN: 0190626666
Category : Medical
Languages : en
Pages : 976

Book Description
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.

Pediatric Bone

Pediatric Bone PDF Author: Francis H. Glorieux
Publisher: Academic Press
ISBN: 0123820405
Category : Medical
Languages : en
Pages : 885

Book Description
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).

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias PDF Author: Ralph S. Lachman
Publisher: Mosby
ISBN: 9780323019316
Category : Bones
Languages : en
Pages : 0

Book Description
"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.

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias

Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias PDF Author: Hooshang Taybi
Publisher: Mosby Incorporated
ISBN: 9780815187097
Category : Medical
Languages : en
Pages : 1135

Book Description
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.

Evidence-based Obstetrics and Gynecology

Evidence-based Obstetrics and Gynecology PDF Author: Errol R. Norwitz
Publisher: John Wiley & Sons
ISBN: 1444334336
Category : Medical
Languages : de
Pages : 646

Book Description
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.