Fetal And Perinatal Skeletal Dysplasias

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Fetal and Perinatal Skeletal Dysplasias

Christine Hall,Amaka Offiah,Francesca Forzano,Mario Lituania,Michelle Fink,Deborah Krakow
Fetal and Perinatal Skeletal Dysplasias Book PDF

Author : Christine Hall,Amaka Offiah,Francesca Forzano,Mario Lituania,Michelle Fink,Deborah Krakow
Publisher : CRC Press
Page : 840 pages
File Size : 48,9 Mb
Release : 2012-09-30
Category : Medical
ISBN : 9781315346298

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Fetal and Perinatal Skeletal Dysplasias by Christine Hall,Amaka Offiah,Francesca Forzano,Mario Lituania,Michelle Fink,Deborah Krakow Pdf

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 and Perinatal Skeletal Dysplasias

Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire
Fetal and Perinatal Skeletal Dysplasias Book PDF

Author : Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire
Publisher : CRC Press
Page : 1282 pages
File Size : 47,5 Mb
Release : 2024-07-30
Category : Medical
ISBN : 9781040005231

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Fetal and Perinatal Skeletal Dysplasias by Christine M Hall,Amaka C Offiah,Francesca Forzano,Mario Lituania,Gen Nishimura,Valerie Cormier-Daire Pdf

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

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

Jacob Bar-Ziv,Israel Meizner
In Utero Diagnosis of Skeletal Disorders An Atlas of Prenatal Sonographic and Postnatal Radiologic Correlation Book PDF

Author : Jacob Bar-Ziv,Israel Meizner
Publisher : Taylor & Francis
Page : 308 pages
File Size : 42,5 Mb
Release : 2022-10-30
Category : Medical
ISBN : 9781351439039

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In Utero Diagnosis of Skeletal Disorders An Atlas of Prenatal Sonographic and Postnatal Radiologic Correlation by Jacob Bar-Ziv,Israel Meizner Pdf

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.

Fetal Medicine

Zarko Alfirevic,Seshadri Suresh,Jonathan Hyett
Fetal Medicine Book PDF

Author : Zarko Alfirevic,Seshadri Suresh,Jonathan Hyett
Publisher : Cambridge University Press
Page : 521 pages
File Size : 54,8 Mb
Release : 2023-05-31
Category : Medical
ISBN : 9781009034968

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Fetal Medicine by Zarko Alfirevic,Seshadri Suresh,Jonathan Hyett Pdf

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.

Genetic Disorders and the Fetus

Aubrey Milunsky
Genetic Disorders and the Fetus Book PDF

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
Page : 910 pages
File Size : 47,9 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.

Bone Dysplasias

Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger
Bone Dysplasias Book PDF

Author : Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger
Publisher : Oxford University Press
Page : 976 pages
File Size : 40,7 Mb
Release : 2018-10-25
Category : Medical
ISBN : 9780190626662

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Bone Dysplasias by Jürgen W. Spranger,Paula W. Brill,Christine Hall,Gen Nishimura,Andrea Superti-Furga,Sheila Unger Pdf

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.

Fetal and Neonatal Pathology

Jean W. Keeling
Fetal and Neonatal Pathology Book PDF

Author : Jean W. Keeling
Publisher : Springer Science & Business Media
Page : 699 pages
File Size : 42,6 Mb
Release : 2013-03-09
Category : Medical
ISBN : 9781447138020

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Fetal and Neonatal Pathology by Jean W. Keeling Pdf

A classic in the field! The first edition of this highly readable and practical text quickly established a reputation as the best single source of information on common pathological findings in the perinatal setting. Morbid anatomists and histopathologists the world over turn to Dr. Keeling's book to help them find appropriate methods of investigation for discovering fetal abnormality in the second and third trimester and in neonatal death. Expanded and up-to-date! The second edition has been considerably expanded and revised to reflect recent modifications in clinical practice, yet it still provides complete and unique coverage in only one volume. Clearly organized to give both clinical background and system-by-system coverage! Following the format of the first edition, the first half of the book discusses problems encountered in fetal/perinatal pathology with some essential clinical background; the second half illustrates pathological conditions system by system. The differences between second and third trimester conditions are explicitly shown. Cross-referenced for easy access! Related conditions and pathological details are cross-referenced between the sections by chapter and page number so that complete access to all the information is guaranteed. From the many excellent reviews of the first edition:"Not the least of its winning points is its readability throughout. I strongly recommend this book to anyone who has anything at all to do with fetuses and neonates professionally." #Pathology#1 "The book contains an enormous quantity of information on aspects of the subject not available elsewhere and well-chosen, up-to-date references throughout. It should certainly be available for reference in all departments concerned with perinatal medicine..." #The Lancet#2 "It succeeds splendidly in providing the general histopathologist with a clear outline of perinatal pathology, and destroys any residual reasons for regarding this branch of pathology as being on the one hand, uninformative or, on the other hand, enveloped in a mystique of its own. ... It should be in the hands of, or at least available to, all general pathologists called upon to perform perinatal autopsies; many non-pathologists concerned with fetal development and disorders will also find this text of considerable interest." #Placenta#3 "If one were allowed a single reference book on fetal and neonatal pathology this would be the one to have!" #Pathology#4

Placental-Fetal Growth Restriction

Christoph Lees,Gerard H. A. Visser,Kurt Hecher
Placental Fetal Growth Restriction Book PDF

Author : Christoph Lees,Gerard H. A. Visser,Kurt Hecher
Publisher : Cambridge University Press
Page : 299 pages
File Size : 52,7 Mb
Release : 2018-08-02
Category : Medical
ISBN : 9781107101395

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Placental-Fetal Growth Restriction by Christoph Lees,Gerard H. A. Visser,Kurt Hecher Pdf

Master the effective evaluation of placental-fetal growth restriction (PFGR), whilst developing strategies to reduce the risk of perinatal mortality and morbidity in patients worldwide.

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

Ralph S. Lachman
Taybi and Lachman s Radiology of Syndromes Metabolic Disorders and Skeletal Dysplasias Book PDF

Author : Ralph S. Lachman
Publisher : Mosby
Page : 0 pages
File Size : 54,8 Mb
Release : 2007
Category : Bones
ISBN : 0323019315

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Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias by Ralph S. Lachman Pdf

"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.

Pediatric Bone

Francis H. Glorieux,John M. Pettifor,Harald Jüppner
Pediatric Bone Book PDF

Author : Francis H. Glorieux,John M. Pettifor,Harald Jüppner
Publisher : Academic Press
Page : 885 pages
File Size : 42,8 Mb
Release : 2011-09-28
Category : Medical
ISBN : 9780123820402

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Pediatric Bone by Francis H. Glorieux,John M. Pettifor,Harald Jüppner Pdf

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).

Fundamental and Advanced Fetal Imaging

Beth Kline-Fath,Ray Bahado-Singh,Dorothy Bulas
Fundamental and Advanced Fetal Imaging Book PDF

Author : Beth Kline-Fath,Ray Bahado-Singh,Dorothy Bulas
Publisher : Lippincott Williams & Wilkins
Page : 2503 pages
File Size : 40,7 Mb
Release : 2014-09-09
Category : Medical
ISBN : 9781469883571

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Fundamental and Advanced Fetal Imaging by Beth Kline-Fath,Ray Bahado-Singh,Dorothy Bulas Pdf

Effectively evaluate obstetric patients with Fundamental and Advanced Fetal Imaging: Ultrasound and MRI! Written by an impressive roster of leading fetal radiologists and maternal-fetal medicine specialists, with additional input from cardiologists, geneticists, and Doppler specialists, this state-of-the-art reference explores how to obtain the maximum information from fetal ultrasound and magnetic resonance imaging, so you can rule out pathologies with confidence – or identify them early enough to initiate the most appropriate interventions.

Evidence-based Obstetrics and Gynecology

Errol R. Norwitz,Carolyn M. Zelop,David A. Miller,David L. Keefe
Evidence based Obstetrics and Gynecology Book PDF

Author : Errol R. Norwitz,Carolyn M. Zelop,David A. Miller,David L. Keefe
Publisher : John Wiley & Sons
Page : 646 pages
File Size : 45,6 Mb
Release : 2019-02-26
Category : Medical
ISBN : 9781444334333

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Evidence-based Obstetrics and Gynecology by Errol R. Norwitz,Carolyn M. Zelop,David A. Miller,David L. Keefe Pdf

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.

The 11-14-Week Scan: The Diagnosis of Fetal Abnormalities

R.J.M. Snijders
The 11 14 Week Scan The Diagnosis of Fetal Abnormalities Book PDF

Author : R.J.M. Snijders
Publisher : CRC Press
Page : 196 pages
File Size : 52,9 Mb
Release : 1999-09-15
Category : Medical
ISBN : 185070743X

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The 11-14-Week Scan: The Diagnosis of Fetal Abnormalities by R.J.M. Snijders Pdf

The 11-14-week scan helps to identify a high proportion of fetuses with trisomy 21 and other chromosomal abnormalities, major defects of the heart and great arteries, and a wide range of skeletal dysplasias and genetic syndromes. Other benefits include confirmation that the fetus is alive, accurate dating of the pregnancy, early diagnosis of major fetal defects, and the detection of multiple pregnancies and identification of chorionicity. The 11-14-Week Scan is a complete, authoritative clinician's textbook on using ultrasound as the main diagnostic tool in the prenatal detection of congenital abnormalities. It provides the basis of learning for the theoretical component of the Certificate of Competence in the 11-14-week scan awarded by The Fetal Medicine Foundation. The book covers early screening for chromosomal abnormalities, implications of increased nuchal translucency in chromosomally normal fetuses, ultrasound diagnosis of fetal ab normalities, determination of chorionicity and implications and management of multiple pregnancies, and multifetal pregnancy reduction.

The Growth Plate

Irving M. Shapiro,Barbara Boyan,H. Clarke Anderson
The Growth Plate Book PDF

Author : Irving M. Shapiro,Barbara Boyan,H. Clarke Anderson
Publisher : IOS Press
Page : 312 pages
File Size : 42,6 Mb
Release : 2002
Category : Computers
ISBN : 1586032402

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The Growth Plate by Irving M. Shapiro,Barbara Boyan,H. Clarke Anderson Pdf

Evidence generated by a number of genetic studies indicates that growth is regulated by a number of genes and that interference with their expression can have catastrophic effects on the well being of the whole organism. This work covers skeletal development and growth.

Ultrasound of Congenital Fetal Anomalies

Dario Paladini,Paolo Volpe
Ultrasound of Congenital Fetal Anomalies Book PDF

Author : Dario Paladini,Paolo Volpe
Publisher : CRC Press
Page : 515 pages
File Size : 48,6 Mb
Release : 2018-03-29
Category : Medical
ISBN : 9781466598973

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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.