Atlas of Genetic Diagnosis and Counseling
Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic...
| Κύριος συγγραφέας: | |
|---|---|
| Συγγραφή απο Οργανισμό/Αρχή: | |
| Μορφή: | Ηλεκτρονική πηγή Ηλ. βιβλίο |
| Γλώσσα: | English |
| Έκδοση: |
New York, NY :
Springer New York : Imprint: Springer,
2017.
|
| Έκδοση: | 3rd ed. 2017. |
| Θέματα: | |
| Διαθέσιμο Online: | Full Text via HEAL-Link |
Πίνακας περιεχομένων:
- Acardia
- Achondrogenesis
- Achondroplasia
- Adams-Oliver Syndrome
- Agnathia
- Aicardi Syndrome
- Alagille Syndrome
- Albinism
- Alpha-Thalassemia X-linked Mental Retardation Syndrome
- Ambiguous Genitalia
- Amniotic Deformity, Adhesions, Mutilations (ADAM) Complex
- 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
- Body Stalk Anomaly
- Brachydactyly
- Branchial Cleft Anomalies
- Calcinosis Cutis
- Campomelic Dysplasia
- Carpenter Syndrome
- Cat Eye Syndrome
- Celiac Disease
- Cerebral Palsy
- Cerebro-Costo-Mandibular Syndrome
- Charcot-Marie-Tooth Disease
- CHARGE Syndrome
- Cherubism
- Chiari Malformation
- Chondrodysplasia Punctata
- Chromosome Abnormalities in Pediatric Solid Tumors
- Cleft Lip and/or Cleft Palate
- Cleidocranial Dysplasia
- Cloacal Exstrophy
- Clubfoot
- Collodion Baby
- Congenital Adrenal Hyperplasia
- Congenital Cutis Laxa
- Congenital Cytomegalovirus Infection
- Congenital Generalized Lipodystrophy
- Congenital Hemihyperplasia
- Congenital Hydrocephalus
- Congenital Hypothyroidism
- Congenital Muscular Dystrophy
- Congenital Toxoplasmosis
- Conjoined Twins
- Corpus Callosum Agenesis/Dysgenesis
- Craniometaphyseal Dysplasia
- Cri-Du-Chat Syndrome
- Crouzon Syndrome
- Cutaneous Vasculitis
- 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
- Dyschondrosteosis
- Dysmelia
- Dysplasia Epiphysealis Hemimelica
- Dystonia
- Dystrophinopathies
- Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome
- Ehlers-Danlos Syndrome
- Ellis-van Creveld Syndrome
- Enchondromatosis
- Epidermolysis Bullosa
- Epidermolytic Palmoplantar Keratoderma
- Faciogenital (Faciodigitogenital) Dysplasia
- Facioscapulohumeral Muscular Dystrophy
- Familial Adenomatous Polyposis
- Familial Hyperlysinemia
- Familial Mediterranean Fever
- Familial Patella Instability
- Familial Spastic Paraplegia
- Fanconi Anemia
- Feingold Syndrome
- Femoral Hypoplasia - Unusual Facies Syndrome
- Fetal Akinesia Deformation Sequence
- Fetal Alcohol Spectrum Disorders
- Fetal Hydantoin Syndrome
- Fibrodysplasia Ossificans Progressiva
- Fibular Hemimelia
- Finlay-Marks Syndrome
- Floppy Infant
- Fragile X Syndrome
- Fraser Syndrome
- Freeman-Sheldon Syndrome
- Friedreich Ataxia
- Frontonasal Dysplasia
- Galactosemia
- Gastroschisis
- Gaucher Disease
- Generalized Arterial Calcification of Infancy
- Genitopatellar Syndrome
- Giant Congenital Melanocytic Nevi
- Gilbert Syndrome
- Glucose-6-Phosphate Dehydrogenase Deficiency
- Glycogen Storage Disease, Type 2
- Goldenhar Syndrome
- Gorlin Syndrome
- Greig Cephalopolysyndactyly Syndrome
- Growth Hormone Deficiency
- Hallermann-Streiff Syndrome
- Harlequin Ichthyosis
- Hemangiomas of Infancy
- Hemophilia A
- Hereditary Hearing Loss
- Hereditary
- Hemochromatosis
- Hereditary Multiple Exostoses
- Hereditary Sensory and Autonomic Neuropathies
- Herlyn-Werner-Wunderlich Syndrome
- Holoprosencephaly
- Holt-Oram Syndrome
- Huntington Disease
- Hydranencephaly
- Hydrolethalus Syndrome
- Hydrops Fetalis
- Hyper-IgE Syndrome
- Hypertrophic Cardiomyopathy (HCM)
- Hypochondroplasia
- Hypoglossia-Hypodactylia Syndrome
- Hypohidrotic Ectodermal Dysplasia
- Hypomelanosis of Ito
- Hypophosphatasia
- Hypopituitarism
- I(1p), I(1q) Syndrome
- Idic(Yq) Syndrome
- Incontinentia Pigmenti
- Infantile Myofibromatosis
- Ivemark Syndrome
- Jarcho-Levin Syndrome
- Joubert 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
- Loeys-Dietz Syndrome
- Lowe Syndrome
- Lymphangiomas and Lymphangiomatosis
- M#xf6;bius Syndrome
- Macrodactyly
- Marfan Syndrome
- McCune-Albright Syndrome
- Meckel-Gruber Syndrome
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Menkes Disease
- Metachromatic Leukodystrophy
- Miller-Dieker Syndrome
- Mitochondrial Leber Hereditary Optic Neuropathy
- Mitochondrial Myopathy
- Mowat-Wilson Syndrome
- Mucolipidosis 2
- Mucolipidosis 3
- Mucopolysaccharidosis 1 (MPS 1)
- Mucopolysaccharidosis 2
- Mucopolysaccharidosis 3
- Mucopolysaccharidosis 4
- Mucopolysaccharidosis 6
- Multiple Endocrine Neoplasia Syndromes
- Multiple Epiphyseal Dysplasia
- Multiple Pterygium Syndrome
- Myotonic Dystrophy Type 1
- Nager Acrofacial Dysostosis
- Nail-Patella Syndrome
- Nasal Obstruction in Neonates and Children
- Neonatal Herpes Simplex Infection
- Nephrogenic Diabetes Insipidus
- Netherton Syndrome
- Neu-Laxova Syndrome
- Neural Tube Defects
- Neurofibromatosis 1
- Neurofibromatosis 2
- Niemann-Pick Disease
- Noonan Syndrome
- Oblique Facial Cleft Syndrome
- Oligohydramnios Sequence
- Omphalocele
- Opitz Trigonocephaly (C) Syndrome
- Oral-Facial-Digital Syndrome
- Osteogenesis Imperfecta
- Osteogenesis Imperfecta Ehlers-Danlos Overlap Syndrome
- Osteopetrosis
- Osteopoikilosis
- Otopalatodigital Spectrum Disorders
- Pachyonychia Congenita
- Pallister-Killian Syndrome
- Peutz-Jeghers Syndrome
- Phenylketonuria
- Pierre Robin Sequence
- Polycystic Kidney Disease, Autosomal Dominant Type
- Polycystic Kidney Disease: Autosomal Recessive Type
- Popliteal Pterygium Syndrome
- Prader-Willi Syndrome
- Primary Microcephaly
- Progeria
- Prune Belly Syndrome
- Pseudoachondroplasia
- R(18) Syndrome
- Radioulnar Synostosis
- Retinoid Embryopathy
- Rett Syndrome
- Rickets
- Rigid Spine Syndrome
- Roberts Syndrome
- Robinow Syndrome
- Rubinstein-Taybi Syndrome
- Saethre-Chotzen Syndrome
- Sagittal Craniosynostosis Associated with Chromosome Abnormalities with a Brief Review on Craniosynostosis
- Schizencephaly Schmid Metaphyseal Chondrodysplasia
- Seckel Syndrome
- Severe Combined Immune Deficiency
- Short Rib-Polydactyly Syndromes
- Sickle Cell Disease
- Silver-Russell Syndrome
- Sirenomelia
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Sotos Syndrome
- Spinal Muscular Atrophy
- Spondyloepiphyseal Dysplasia
- Stickler Syndrome
- Sturge-Webber Syndrome
- Symphalangism
- 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
- Trisomy 8 Mosaicism Syndrome
- Tuberous Sclerosis
- Turner Syndrome
- Twin-Twin Transfusion Syndrome
- Tyrosinemia
- Ulnar-Mammary Syndrome
- Urofacial Syndrome
- VATER (VACTERL) Association
- Von Hippel-Lindau Disease
- Waardenburg Syndrome
- Weill-Marchesani Syndrome
- Williams Syndrome
- Winchester syndrome
- Wolf-Hirschhorn Syndrome
- X-Linked Agammaglobulinemia
- X-Linked Ichthyosis
- XX Male
- XXX Syndrome
- XXXXX Syndrome
- XXXXY Syndrome
- XY Female
- XYY Syndrome.
