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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 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. .
"Provides basic consumer health information about disorders caused by gene and chromosome abnormalities and those with genetic and environmental components, along with facts about genetic testing and treatment research, and guidance for parents of children with special needs. Includes index, glossary of related terms, and other resources"--
Provides basic consumer health information about disorders caused by gene and chromosome abnormalities and those with genetic and environmental components, along with facts about genetic testing and treatment research, and guidance for parents of children with special needs. Includes index, glossary of related terms, and other resources.
Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.
A human DNA sequence consists of 23 pairs of chromosomes. Each pair of chromosomes is further made up of for normal genetic growth and development. When the sequence has too many or is missing one or more chromosomes, or if a gene mutates, the information process becomes interrupted. This lack of or extra information causes a genetic disorder or syndrome. Such errors sometime lead to abnormal growth and development involving speech, language, and hearing. This comprehensive reference guide assists students, teachers, and practitioners in the applied health sciences field by providing general diagnostic and management guidelines. While not a comprehensive review of all existing genetic syndromes involving communication disorders, it is a concise text highlighting the syndromes commonly seen in interdisciplinary clinics (e.g., Downs Syndrome, Huntington's Disease, or Oto-Palatal-Digital, etc.) Chapters: 1.Principles of Medical genetics 2.Chromosomal syndromes 3.Single Gene Syndrome (Autosomal Dominant, Autosomal Recessive, and X-Linked Diseases) 4.Polygenic-Multifactorial syndromes 5.Non-Syndromic Hearing Loss 6.Sporadic syndromes 7.Environmental syndromes. Also included are (a) a glossary of genetic and medical terms, (b) a cross-reference index of syndromes by physical abnormality, and (c) Illustrations detailing specific characteristic dysmorphology of syndromes.