Waardenburg Syndrome
Waardenburg Syndrome

Author: Alice Kahn

Publisher: Plural Publishing

Published: 2007

Total Pages: 154

ISBN-13:

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From the Publisher: Waardenburg syndrome often goes undetected and undiagnosed as many healthcare professionals are unaware of this syndrome. This text represents the first publication dedicated entirely to Waardenburg syndrome and is an essential resource for identification, diagnosis, and treatment. It introduces basic genetic concepts, explains the four types of Waardenburg syndrome, and provides practical guidance in recognizing individuals with the syndrome, including color photographs that highlight diagnostic features and incidence of the syndrome in families, testing for hearing, and counseling patients and parents. It then provides a comprehensive plan of action for treating patients, and encourages readers to understand when and how to appropriately refer patients to the craniofacial team for genetic assessment. Resource materials for both clinicians and clients are also included.

Syndromes: Rapid Recognition and Perioperative Implications
Syndromes: Rapid Recognition and Perioperative Implications

Author: Bruno Bissonnette

Publisher: McGraw-Hill Education / Medical

Published: 2006-08-10

Total Pages: 988

ISBN-13:

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Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Clinical Cases in Pigmentary Disorders
Clinical Cases in Pigmentary Disorders

Author: Torello Lotti

Publisher: Springer Nature

Published: 2020-08-24

Total Pages: 198

ISBN-13: 3030508234

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This book provides a guide to the diagnosis and management of pigmentary disorders. Each chapter explores a different clinical case to give the reader an interdisciplinary understanding of treatment options. Particular attention is given to the treatment of hypopigmentation, hypomelanosis and discoloration with cases highlighting the effects of drug intake, genetic alterations and the polluted environment. Clinical Cases in Pigmentary Disorders examines therapeutic approaches through evidence-based best practice techniques and is relevant to dermatologists, oncologists, pharmacologists and pathologists.

Genetic Hearing Loss
Genetic Hearing Loss

Author: Patrick J. Willems

Publisher: CRC Press

Published: 2003-10-17

Total Pages: 453

ISBN-13: 0824756886

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Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. Thanks in large part to positional cloning techniques, scientists have identified nearly 100 gene loci implicated in hearing loss since 1995-an extraordinarily rapid rate of gene identification. Genetic Hearing Loss branches into syndromic and nonsyndromic categorical directions in its coverage of the genetics behind hearing loss. Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations.

The Neural Crest
The Neural Crest

Author: Nicole Le Douarin

Publisher: Cambridge University Press

Published: 1999-11-28

Total Pages: 494

ISBN-13: 9780521620109

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This 1999 edition of The Neural Crest contains comprehensive information about the neural crest, a structure unique to the vertebrate embryo, which has only a transient existence in early embryonic life. The ontogeny of the neural crest embodies the most important issues in developmental biology, as the neural crest is considered to have played a crucial role in evolution of the vertebrate phylum. Data that analyse neural crest ontogeny in murine and zebrafish embryos have been included in this revision. This revised edition also takes advantage of recent advances in our understanding of markers of neural crest cell subpopulations, and a full chapter is now devoted to cell lineage analysis. The major research breakthrough since the first edition has been the introduction of molecular biology to neural crest research, enabling an elucidation of many molecular mechanisms of neural crest development. This book is essential reading for students and researchers in developmental biology, cell biology, and neuroscience.

Vitiligo and Other Hypomelanoses of Hair and Skin
Vitiligo and Other Hypomelanoses of Hair and Skin

Author: Jean-Paul Ortonne

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 774

ISBN-13: 1461592720

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Leukoderma is a generic term for any pigmentary dilution, be it congenital or acquired, circumscribed or generalized, devoid of or partially lacking in pig mentation. In the approach to the diagnosis of leukoderma, we have generally first considered the age of onset, whether leukoderma was congenital or ac quired, the extent and pattern of involvement, and the degree of pigmentary dilution. The organization of this monograph reflects this approach. For ex ample, we have separated the section devoted to various disease entities into diffuse and circumscribed leukoderma and the latter into various etiologies such as genetic, metabolic, infectious, and endocrinologic. One of several justifications for this monograph is to present an approach to the diagnosis of leukoderma, as detailed in Part II. In formulating a guide for the physician, we have found some limitations to our previous approach; we therefore offer the following new classification based upon a clini cal-pathologic correlation. This could provide the means to describe both the clinical and pathologic findings in one term.

Hereditary Hearing Loss and Its Syndromes
Hereditary Hearing Loss and Its Syndromes

Author: Helga V. Toriello

Publisher: Oxford University Press

Published: 2013-06-20

Total Pages: 749

ISBN-13: 0199313881

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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.

Vertigo: Its Multisensory Syndromes
Vertigo: Its Multisensory Syndromes

Author: Thomas Brandt

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 347

ISBN-13: 1447133420

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A variety of syndromes are hidden behind the term vertigo; the interdisciplinary approach here shows how surprisingly easy it is to correctly diagnose and effectively treat them. The book's clinical practicality uncovers the key elements necessary for understanding vertigo: the sensorimotor physiology, careful history-taking, and otoneurological examination. For each syndrome, there is a full description of the clinical features and diagnostic procedure. Numerous tables and thorough cross-referencing guide you to differential diagnosis. Special emphasis is placed on the relationship between the management and the underlying pathological mechanism of the disease.