Title Atlas of genetic diagnosis and counseling / Harold Chen

Published Totowa, N.J. : Humana Press, ©2006

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Description 1 online resource (xi, 1076 pages) : illustrations Contents Arcadia -- Achondrogenesis -- Achondroplasia -- Adams-Oliver syndrome -- Agnathia -- Aicardi syndrome -- Alagille syndrome -- Albinism -- Amniotic band syndrome -- Androgen insensitivity syndrome -- Angelman syndrome -- Apert syndrome -- Aplasia cutis congenita -- Arthrogryposis multiplex congenita -- Asphyxiating thoracic dystrophy -- Ataxia telangiectasia -- Atelosteogenesis -- Autism -- Beckwith-Wiedemann syndrome -- Behcet disease -- Bladder exstrophy -- Body stalk anamoly -- Branchial clefts anamolies -- Campomelic dysplasia -- Cat eye syndrome -- Cerebro-costo-mandibular syndrome -- Charcot-Marie-Tooth disease -- CHARGE Association -- Cherubism -- Chiari malformation -- Chondrodysplasia punctata -- Chromosome abnormalities in pediatric solid tumors -- Cleft lip and/or cleft palate -- Cleidocranial dysplasia -- Cloacal exstrophy -- Collodion baby -- Congenital adrenal hyperplasia (21-hydroxylase deficiency) -- Congenital cutis laxa -- Congenital cytomegalovirus infection -- Congenital generalized lipodystrophy -- Congenital hydrocephalus -- Congenital hypothyriodism -- Congenital muscular dystrophy -- Congenital toxoplasmosis -- Conjoined twins -- Corpus callosum agenesis/dysgenesis -- Craniometaphysical dysplasia -- Cri-du-chat syndrome -- Crouzon syndrome -- Cystic fibrosis -- Dandy-Walker malformation -- De Lange syndrome -- Del(22q11.2) syndromes -- Diabetic embryopathy -- Down syndrome -- Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic dysplasia -- Dysmelia (limb deficiency/reduction) -- Dysplasia epiphysealis hemimelica -- Dystonia -- Dystrophinopathies -- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome -- Dhlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Enchondromatosis (Maffucci syndrome; Ollier syndrome) -- Epidermolysis bullosa -- Epidermolytic palmoplantar keratoderma -- Faciogenital (Aarskog) dysplasia -- Facioscapulohumeral muscular dystrophy -- Familial adenomatous polyposis -- Familial hyperlysinemia -- Fanconi anemia -- Femoral hypoplasia-unusual facies syndrome -- Fetal akinesia syndrome -- Fetal alcohol syndrome -- Fibrodysplasia ossificans progressiva -- Finlay-Marks syndrome -- Fragile X syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Frontonasal dysplasia -- Galactosemia -- Gastroschisis -- Gaucher disease -- Generalized arterial calcification of infancy -- Glucose 6-phosphate dehydrogenase deficiency -- Glycogen storage disease, type II -- Goldenhar syndrome -- Hallermann-Streiff syndrome -- Harlequin ichthyosis (harlequin fetus) -- Hemophilia A -- Hereditary hemochromatosis -- Hereditary multiple exostoses -- Holoprosencephaly -- Holt-Oram syndrome -- Hydrops fetalis -- Hyper-IgE syndrome -- Hypochondroplasia -- Hypoglossia-hypodactylia syndrome -- Hypohidrotic ectodermal dysplasia -- Hypomelanosis of Ito -- Hypophosphatasia -- Incontinentia pigmenti -- Infantile myofibromatosis -- Ivemark syndrome -- Jarcho-Levin syndrome -- Kabuki syndrome -- Kasabach-Merritt syndrome -- KID syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay syndrome -- Kniest dysplasia -- Larsen syndrome -- LEOPARD syndrome -- Lesch-Nyhan syndrome -- Lethal multiple pterygium syndrome -- Lowe syndrome -- Marfan syndrome -- McCune-Albright syndrome -- Meckel-Gruber syndrome -- Menkes disease (Kinky-hair syndrome) -- Metachromatic leukodystrophy -- Miller-Dieker syndrome -- Möbius syndrome -- Mucolipidosis II (I-cell disease) -- Mucolipidosis III (pseudo-Hurler polydystrophy) -- Mucopolysaccharidosis I (MPS I) (alpha-L-iduronidase deficiency) : Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) syndromes -- Mucopolysaccharidosis II (Hunter syndrome) -- Mucopolysaccharidosis III (Sanfilippo syndrome) -- Mucopolysaccharidosis IV (Morquio syndrome) -- Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) -- Multiple epiphyseal dysplasia -- Multiple pterygium syndrome -- Myotonic dystrophy type I -- Netherton syndrome -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis I -- Noonan syndrome -- Oblique facial cleft syndrome -- Oligohydramnios sequence -- Omphalocele -- Osteogenesis imperfecta -- Osteopetrosis -- Pachyonychia congenita -- Pallister-Killian syndrome -- Phenylketonuria (PKU) -- Pierre Robin sequence -- Polycystic kidney disease, autosomal dominant type -- Polycystic kidney disease, autosomal recessive type -- Prader-Willi syndrome -- Progeria -- Prune belly syndrome -- Pseudoachondroplasia -- R(18) syndrome -- Retinoid embyopathy -- Rett syndrome -- Rickets -- Roberts syndrome -- Robinow syndrome -- Rubinstein-Taybi syndrome -- Schizencephaly -- Schmid metaphyseal chondrodysplasia -- Seckel syndrome -- Severe combined immune deficiency -- Short rib polydactyly sydromes -- Sickle cell disease -- Silver-Russell syndrome -- Sirenomelia -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- Spinal muscular atrophy -- Spondyloepiphyseal dysplasia -- Stickler syndrome -- Sturge-Weber syndrome -- Tay-Sachs disease -- Tetrasomy 9p syndrome -- Thalassemia -- Thanatophoric dysplasia -- Thrombocytopenia-absent radius syndrome -- Treacher-Collins syndrome -- Trimethylaminuria -- Triploidy -- Trismus pseudocamptodactyly syndrome -- Trisomy 13 syndrome -- Trisomy 18 syndrome -- Tuberous sclerosis -- Turner syndrome -- Twin-twin transfusion syndrome -- Ulnar-mammary syndrome -- VATER (VACTERL) Association -- Von Hippel-Lindau disease -- Waardenburg syndrome -- Williams syndrome -- Wolf-Hirschhorn syndrome -- X-linked ichthyosis -- XXX syndrome -- XXXXX syndrome -- XXXXY syndrome -- XY female -- XYY syndrome Summary "A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies"--Page 4 of cover Bibliography Includes bibliographical references In Springer e-books Subject Genetic disorders -- Diagnosis -- Atlases Genetic counseling -- Atlases Genetic disorders. Genetic counseling. Prenatal diagnosis. Genetic Diseases, Inborn Genetic Counseling Prenatal Diagnosis Pregnancy pregnancy. HEALTH & FITNESS -- Diseases -- Genetic. MEDICAL -- Genetics. Genetic counseling. Genetic Diseases, Inborn. Prenatal diagnosis. Maladies héréditaires -- Diagnostic. Conseil génétique. Genetic disorders -- Diagnosis. Prenatal diagnosis Genetic disorders Genetic counseling Genetic disorders -- Diagnosis Genre/Form Electronic books atlases. Atlases Scientific atlases Atlases. Atlas. Form Electronic book LC no. 2005005388 ISBN 1588296814 9781588296818 9781592599745 1592599745 9781603271615 1603271619 1592599567 9781592599561 1280831898 9781280831898 6610831890 9786610831890

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