The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.

The incidence of handicap from syndromes and inherited disorders is worldwide and causes common problems for families and society. This book includes ten extra syndromes in an endeavour to keep up with the rapidly expanding knowledge associated with genetic disorders.

This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .

This work offers an evaluation of competing theoretical perspectives and nosological systems for personality disorders. The editors have brought together recognized authorities in the field to offer a synthesis of competing perspectives that provide readers with an assessment for each disorder. The result is a comprehensive, current, and critical summary of research and practice guidelines related to the personality disorders. Key Features focuses on controversies and alternative conceptualizations; separate chapters are dedicated to each personality disorder and considered from various points of view. It presents authoritative perspectives; leading scholars and researchers in the field provide a critical evaluation of alternative perspectives on each personality disorder. And it frames the current state of personality disorder research and practice issues; cutting edge and streamlined research is presented to be used in courses on diagnosis, assessment, psychopathology and abnormal psychology, especially those that include the DSM IV. It also offers an integrative understanding of elusive personality categorizations; wherever possible, case examples are offered as illustrations of each disorders clinical presentation. The use of technical terms are minimized; each contributor takes the approach of a user friendly summary and integration of major trends, findings, and future directions.