Management of Genetic Syndromes
Suzanne B. Cassidy, Judith E. Allanson
Wiley, Jan 31, 2001 - Medical - 576 pages
Although genetic disorders and syndromes are usually considered rare, their aggregate frequency makes them an inescapable part of medicine. It is crucial that affected individuals, their families, and their primary and specialty care physicians have an accurate and reliable resource so that the best care possible can be provided. Furthermore, with the remarkable surge of information that has become available due to networking of researchers and families, the development of support groups, and the availability of research reports and data, it is essential for one reference to contain all of this material organized in an easy–to–use manner. Management of Genetic Syndromes fills this vital need.
Through an in–depth understanding of a specific disorder, physicians and parents can help patients reach their full potential, benefit from useful therapies, and avoid complications. Management of Genetic Syndromes is written by expert authors and offers a practical approach to the evaluation and management of the 30 most common genetic syndromes from birth to adulthood. It provides information about the spectrum of variation that can occur, risk of recurrence in the affected individual′s siblings and offspring, and whether prenatal diagnosis and diagnostic testing are available.
Management of Genetic Syndromes incorporates a wealth of knowledge and experience with each chapter containing detailed coverage of:
∗ Etiology and pathogenesis
∗ Natural history
∗ Diagnostic criteria
∗ Diagnostic testing
∗ Differential diagnosis
∗ Reference and resources
This essential book will offer medical geneticists, clinical geneticists, human geneticists, pediatricians, and other health care professionals insight into treatment and management, as well as the development of new interventions and therapies.
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abnormalities achondroplasia adults affected individuals airway Allanson and/or Angelman syndrome anomalies aortic assessment atresia autosomal Beckwith-Wiedemann syndrome behavior birth bone cardiac cause CHARGE association child childhood chromosome cleft palate Clin clinical collagen common congenital Cornelia de Lange defects delay deletion developmental diagnosis diagnostic criteria disease disorder drome dysplasia early Ehlers-Danlos syndrome Evaluation facial feeding fetal alcohol syndrome fragile X syndrome frequently gene growth hormone Hum Genet hypoplasia hypotonia increased infants Lange syndrome lesions males malformations manifestations Marfan syndrome ment mental retardation mild molecular mutation neurofibromatosis Noonan syndrome normal occur osteogenesis imperfecta parents patients Pediatr phenotype Prader-Willi syndrome prenatal present problems renal reported risk Robin sequence Russell-Silver syndrome scoliosis seizures short stature Shprintzen Smith-Magenis syndrome Sotos syndrome stenosis Stickler syndrome studies surgery surgical testing therapy tion tissue Treatment trisomy 18 tuberous sclerosis tumor Turner syndrome usually velo-cardio-facial syndrome Williams syndrome