Overview

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 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. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use. Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malform ation syndromes and better evaluate, counsel, and manage affected patients.

Full Product Details

Author:   Harold Chen
Publisher:   Springer-Verlag New York Inc.
Imprint:   Springer-Verlag New York Inc.
Edition:   Third Edition 2017
Weight:   6.859kg
ISBN:  

9781493924004

ISBN 10:   1493924001
Pages:   3080
Publication Date:   28 June 2017
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Hardback
Publisher's Status:   Active
Availability:   Manufactured on demand  
We will order this item for you from a manufactured on demand supplier.

Table of Contents

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 EmbryopathyDuncan 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 Möbius 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 AgammaglobulinemiaX-Linked Ichthyosis XX Male XXX Syndrome XXXXX Syndrome XXXXY Syndrome XY Female XYY Syndrome

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Harold Chen, MD LSU Health Sciences Center, Department of Pediatrics Medicine, Shreveport, LA, USA

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