Management of Genetic Syndromes
Clinical information on 30 of the most common genetic syndromes. Each chapter deals with a different condition, and all the chapters generally follow the same format. Introductory sections on incidence, diagnostic criteria, etiology and pathogenesis, diagnostic testing, and differential diagnosis are followed by detailed descriptions of the nature, evaluation, and treatment of major disease manifestations. The emphasis is on clinical evaluation and management, but few of the recommendations derive from randomized, controlled trials or rigorous epidemiologic studies. Rather, what is usually presented is the extensive anecdotal experience of the authors.
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Roger E Stevenson
Albinism and HermanskyPudlak Syndrome
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abnormalities achondroplasia adults affected individuals Alagille syndrome albinism Allanson and/or Angelman syndrome anomalies assessment Bardet-Biedl syndrome basal cell carcinomas Beckwith-Wiedemann syndrome behavior birth bone cardiac cause child childhood chromosome cleft Clin clinical Coffin-Lowry syndrome common congenital Cornelia de Lange Costello syndrome craniofacial defects deletion diagnosis diagnostic criteria disease disorder drome dysplasia Ehlers-Danlos syndrome Evaluation facial feeding females fetal alcohol syndrome fragile X syndrome frequently function gene growth hormone hereditary hemorrhagic telangiectasia holoprosencephaly Hum Genet hypoplasia hypotonia increased infants Lange syndrome lesions males malformations manifestations Marfan syndrome mental retardation molecular mutations myotonic dystrophy neurofibromatosis neurological Noonan syndrome normal obesity occur ocular osteogenesis imperfecta palate parents Pediatr phenotype pigment population Prader-Willi syndrome prenatal problems protein pulmonary renal reported risk Robin sequence Russell-Silver syndrome scoliosis seizures severe skin sleep Smith-Magenis syndrome Sotos syndrome studies surgical symptoms testing therapy tissue Treatment tumor