The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher: Oxford University Press
ISBN: 0199719829
Category : Science
Languages : en
Pages : 320

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Book Description
A highly illustrated field guide to dysmorphology, a key area of clinical genetics and a vital competency for all clinicians. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.

The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher: Oxford University Press
ISBN: 0199719829
Category : Science
Languages : en
Pages : 320

Get Book

Book Description
A highly illustrated field guide to dysmorphology, a key area of clinical genetics and a vital competency for all clinicians. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.

The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher:
ISBN: 9780199975204
Category : Abnormalities, Human
Languages : en
Pages : 0

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Book Description
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.

The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher:
ISBN: 9780190496142
Category :
Languages : en
Pages :

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Book Description


The Bedside Dysmorphologist

The Bedside Dysmorphologist PDF Author: William Reardon
Publisher: Oxford University Press, USA
ISBN: 0199970882
Category : Medical
Languages : en
Pages : 409

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Book Description
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.

Diagnostic Dysmorphology

Diagnostic Dysmorphology PDF Author: J.M. Aase
Publisher: Springer
ISBN:
Category : Medical
Languages : en
Pages : 328

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Book Description
This text provides a systematic approach to the diagnosis of children with multiple birth defects. It outlines the embryologic origins of normal and abnormal physical development, describes the major and minor structural anomalies in each of 20 anatomic regions, and teaches techniques of observation and synthesis useful in dysmorphologic diagnosis. Medical specialists will find Dr. Aase's book invaluable both as an instructive tool and as a clinical reference guide.

Diagnostic Dysmorphology

Diagnostic Dysmorphology PDF Author: Jon M. Aase
Publisher:
ISBN:
Category :
Languages : en
Pages : 299

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Book Description


Hereditary Hearing Loss and Its Syndromes

Hereditary Hearing Loss and Its Syndromes PDF Author: Helga V. Toriello
Publisher: Oxford University Press
ISBN: 0199313881
Category : Medical
Languages : en
Pages : 576

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Book Description
This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field. Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.

Human Malformations and Related Anomalies

Human Malformations and Related Anomalies PDF Author: Roger E. Stevenson
Publisher: Oxford University Press
ISBN: 019974808X
Category : Medical
Languages : en
Pages : 1510

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Book Description
This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

Genomic Medicine

Genomic Medicine PDF Author: Dhavendra Kumar
Publisher: Oxford Monographs on Medical G
ISBN: 019989602X
Category : Medical
Languages : en
Pages : 853

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Book Description
Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Oxford Desk Reference

Oxford Desk Reference PDF Author: Helen V. Firth
Publisher: Oxford University Press, USA
ISBN: 9780192628961
Category : Medical
Languages : en
Pages : 708

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Book Description
Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.