The A-Z Reference Book of Syndromes and Inherited Disorders
Providing a reference for people with a syndrome or inherited disorder, and those who care for them, this book describes the disorders and problems of both children and adults, and considers the day-to-day management of conditions. It is written in non-technical language for a lay readership, but aims to be detailed enough for the medical, nursing and midwifery professions. This edition has been expanded to include 20 more syndromes, as well as additional material to assist readers to contact self-help groups.
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abnormalities achondroplasia adequate adult advice Aims and provisions Antenatal diagnosis assessment associated ataxia autosomal dominant autosomal recessive baby's Batten's disease become behaviour birth blood body bones boys and girls brain cardiac CAUSATION cause CHARACTERISTICS child childhood chorionic villus sampling chromosome clinical condition cystic fibrosis deafness developmental difficulties disease disorder Down's syndrome drugs Duchenne muscular dystrophy Edward's syndrome enzyme example excess facial features feeding frequently FUTURE gene Genetic counselling give rise growth haemophilia he/she hearing Heart defects his/her Hunter's syndrome important incidence infection joints kidney learning disability MANAGEMENT IMPLICATIONS metabolic mode of inheritance muscles necessary Noonan's syndrome normal occur parents possible Prader-Willi pregnancy present problems renal respiratory result retinal Reye's syndrome seen SELF-HELP GROUP severely affected short stature skin specific speech sufferers syndrome ALTERNATIVE NAMES therapy thought tissue treatment Turner's syndrome unusual usually vision visual Waardenburg's syndrome X-linked