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Atlas of Genetic Diagnosis and Counseling
Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagno...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Autor Corporativo: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
New York, NY :
Springer New York : Imprint: Springer,
2012.
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| Edición: | 2nd ed. 2012. |
| Temas: | |
| Acceso en línea: | Texto Completo |
Tabla de Contenidos:
- Acardia
- Achondrogenesis
- Achondroplasia
- Adams-Oliver syndrome
- Agnathia
- Aicardi syndrome
- Alagille syndrome
- Albinism
- Alpha thalassemia-mental retardation (ATR-X) syndrome
- Ambiguous genitalia
- Amniotic deformity, adhesions, mutilations (ADAM) syndrome
- Androgen insensitivity syndrome
- Angelman syndrome
- Apert syndrome
- Aplasia cutis congenita
- Arthrogryposis multiplex congenita
- Asphyxiating thoracic dystrophy
- Ataxia telangiectasia
- Atelosteogenesis
- Autism
- Bannayan-Riley-Ruvalcaba syndrome
- Beckwith-Wiedemann syndrome
- Behcet disease
- Biotinidase deficiency
- Bladder exstrophy
- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
- Body stalk anomaly
- Brachydactyly
- Branchial cleft cyst
- Calcinosis cutis
- Campomelic dysplasia
- Carpenter syndrome
- Cat-eye syndrome
- Celiac disease
- Cerebral palsy
- Cerebro-costo-mandibular syndrome
- Charcot-Marie-Tooth disease
- CHARGE association
- Cherubism
- Chiari malformation
- Chondrodysplasia punctata
- Chromosome abnormalities in pediatric solid tumors
- Cleft lip/palate
- Cleidocranial dysplasia
- Cloacal exstrophy
- Clubfoot (talipes equinovarus)
- Collodion baby
- Congenital adrenal hyperplasia
- Congenital cutis laxa
- Congenital cytomegalovirus infection
- Congenital generalized lipodystrophy
- Congenital hemihyperplasia (congenital hemihypertrophy)
- Congenital hydrocephalus
- Congenital hypothyroidism
- Congenital muscular dystrophy
- Congenital toxoplasmosis
- Conjoined twins
- Corpus-callosum agenesis/dysgenesis
- Craniometaphyseal dysplasia
- Cri-du-chat syndrome
- Crouzon syndrome
- Cutis marmorata telangiectatica congenita
- Cystic fibrosis
- Dandy-Walker malformation
- De Lange syndrome
- Del(18p) syndrome
- Del(22q11.2) syndrome
- Del(Yq) syndrome
- Diabetic embryopathy
- Down syndrome
- Duncan syndrome (X-linked lymphoproliferative disease)
- Dyschondrosteosis/Langer mesomelic dysplasia
- Dysmelia (limb deficiency/reduction)
- Dysplasia epiphysealis hemimelica
- Dystonia
- Dystrophinopathies
- EEC syndrome
- Ehlers-Danlos syndrome
- Ellis-van Creveld syndrome
- Enchondromatosis
- Epidermolysis bullosa
- Epidermolytic palmoplantar keratoderma
- Faciogenital (Aarskog) syndrome
- Facioscapulohumeral muscular dystrophy (FSH)
- Familial adenomatous polyposis syndrome
- Familial hyperlysinemia
- Familial Mediterranean fever
- Fanconi anemia
- Femoral hypoplasia-unusual facies syndrome
- Fetal akinesia syndrome
- Fetal alcohol syndrome
- Fetal hydantoin syndrome
- Fibrodysplasia ossificans progressiva
- Finlay-Marks syndrome
- Floppy infant
- Fragile X syndrome
- Fraser syndrome
- Freeman-Sheldon (whistling face) syndrome
- Friedreich ataxia
- Frontonasal dysplasia
- Galactosemia
- Gastroschisis
- Gaucher disease
- Generalized arterial calcification
- Genitopatellar syndrome
- Giant congenital melanocytic nevi (giant congenital nevi)
- Glucose-6-phosphate dehydrogenase deficiency
- Glycogen storage disease, type II (Pompe)
- Goldenhar syndrome
- Gorlin (nevoid basal cell carcinoma) syndrome
- Greig cephalopolysyndactyly syndrome
- Hallermann-Streiff syndrome
- Harlequin fetus
- Hemophilia A
- Hereditary hearing loss
- Hereditary hemochromatosis
- Hereditary multiple exostosis
- Herlyn-Werner-Wunderlich syndrome
- Holoprosencephaly
- Holt-Oram syndrome
- Huntington disease
- Hydrolethalus syndrome
- Hydrops fetalis
- Hyper-IgE syndrome
- Hypochondroplasia
- Hypoglossia-hypodactyly (oromandibular limb hypogenesis) syndrome
- Hypohidrotic ectodermal dysplasia
- Hypomelanosis of Ito
- Hypophosphatasia
- Hypopituitarism
- I(1p),I(1q) syndrome
- Isodic(Yq) syndrome
- Incontinentia pigmenti
- Infantile myofibromatosis
- Ivemark syndrome
- Jarcho-Levin syndrome
- Joubert syndrome
- Kabuki syndrome
- Kassback-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
- Loeys-Dietz syndrome
- Lowe syndrome
- Marfan syndrome
- McCune-Albright syndrome
- Meckel-Gruber syndrome
- Megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease)
- Menkes disease
- Metachromatic leukodystrophy
- Miller-Dieker syndrome
- Mitochondrial Leber hereditary optic neuropathy
- Mobius syndrome
- Mowat-Wilson Disease
- Mucolipidosis II (I-cell disease)
- Mucolipidosis III (pseudo-Hurler Polydystrophy)
- MPS I (Hurler syndrome)
- MPS II (Hunter syndrome)
- MPS III (Sanfilippo syndrome)
- MPS IV (Morquio syndrome)
- MPS VI (Maroteaux-Lamy syndrome)
- Multiple endocrine neoplasia Syndrome
- Multiple epiphyseal dysplasia
- Multiple pterygium syndrome
- Myotonic dystrophy
- Nail-Patella Syndrome (hereditary Osteo-onychodysplasia)
- Neonatal Herpes simplex infection
- Nephrogenic diabetes insipidus
- Netherton syndrome
- Neu-Laxova syndrome
- Neural tube defects
- Neurofibromatosis 1
- Neurofibromatosis 2
- Noonan syndrome
- Oblique facial cleft syndrome
- Oligohydramnios sequence
- Omphalocele
- Oro-Facial-Digital Syndrome
- Osteogenesis imperfecta
- Osteopetrosis
- Osteopoikilosis
- Otopalatodigital spectrum disorders
- Pachyonychia congenita
- Pallister-Killian syndrome
- Phenylketonuria (PKU)
- Pierre Robin sequence
- Polycystic kidney disease, AD form
- Polycystic kidney disease, AR form
- Popliteal pterygium syndrome
- Prader-Willi syndrome
- Progeria
- Prune belly syndrome
- Pseudoachondroplasia
- R(18) syndrome
- Retinoid embryopathy
- Rett syndrome
- Rickets
- Rigid spine syndrome
- Roberts syndrome
- Robinow syndrome
- Rubinstein-Taybi syndrome
- Saethre-Chotzen syndrome
- Sagittal synostosis associated with chromosome abnormalities
- Schizencephaly
- Schmid metaphyseal chondrodystrophy
- Seckel syndrome
- Severe combined immune deficiency
- Short rib polydactyly syndromes (SRPS)
- Sickle cell disease
- Silver-Russell syndrome
- Sirenomelia
- Smith-Lemli-Optiz 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 (TAR) syndrome
- Treacher-Collins syndrome
- Trimethylaminuria
- Triploidy
- Trismus pseudocamptodactyly (Hecht syndrome)
- Trisomy 8 mosaicism (Warkany) syndrome
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- Tuberous sclerosis
- Turner syndrome
- Twin-twin transfusion syndrome
- Ulnar-mammary syndrome
- Urofacial (Ochoa) Syndrome
- VATER (VACTERL) association
- Von Hippel-Lindau disease
- Waardenburg syndrome
- Weill-Marchesani syndrome
- Williams syndrome
- Wolf-Hirschhorn syndrome
- X-linked agammaglobulinemia (Bruton type)
- X-linked ichthyosis
- XX Male
- XXX syndrome
- XXXXX syndrome
- XXXXY syndrome
- XY female.-XYY syndrome.