In Utero Diagnosis Of Skeletal Disorders

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.

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.

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.

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.

"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.

- Heavily illustrated atlas covers entire development from week 1 through birth. - Enables the Radiologist or Obstetrician to monitor progress, and the Pathologist to see what went wrong. - Cross-disciplinary expertise; authors are a leading Pediatric Radiologist, a Geneticist, and an expert in abnormal pediatric skeletal development.

Now fully updated with more than 2,000 new images and new content throughout, Diagnostic Ultrasound, 5th Edition, by Drs. Carol M. Rumack and Deborah Levine, remains the most comprehensive and authoritative ultrasound resource available. Spanning a wide range of medical specialties and practice settings, it provides complete, detailed information on the latest techniques for ultrasound imaging of the whole body; image-guided procedures; fetal, obstetric, and pediatric imaging; and much more. Up-to-date guidance from experts in the field keep you abreast of expanding applications of this versatile imaging modality and help you understand the "how" and "why" of ultrasound use and interpretation. Covers all aspects of diagnostic ultrasound with sections for Physics; Abdominal, Pelvic, Small Parts, Vascular, Obstetric, and Pediatric Sonography. Uses a straightforward writing style and extensive image panels with correlative findings. Features 5,000 images – more than 2,000 brand-new – including new 2D and 3D imaging as well as the use of contrast agents and elastography. Includes a new virtual chapter on artifacts with individually labelled images from throughout the book, displaying artifacts with descriptive legends by category and how they can be used in diagnosis or corrected for better quality imaging. Features more images and new uses for contrast agents in the liver, breast, and in pediatric applications. Includes current information on imaging more diagnostic dilemmas, such as Zika virus in the fetus and newborn.

An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.