Atlas of Genetic Diagnosis and Counseling

Atlas of Genetic Diagnosis and Counseling

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Description

This book, Atlas of Genetic Diagnosis and understanding of these conditions and their care of Counseling, reflects my experience in 38 years of affected individuals and their families. It is also my clinical genetics practice. During this time, I have intention to bring the basic science and clinical m- cared for many patients and their families and taught icine together for the readers. Atlas of Genetic innumerable medical students, residents, and prac- Diagnosis and Counseling is designed for physicians ticing physicians. As an academic physician, I have involved in the evaluation and counseling of patients found that a picture is truly "worth a thousand with genetic diseases, malformations, and malfor- words," especially in the field of dysmorphology. tion syndromes, including medical geneticists, Over the years, I have compiled photographs of my genetic counselors, pediatricians, neonatologists, patients, which are incorporated into this book to developmental pediatricians, perinatologists, obs- illustrate selected genetic disorders, malformations, tricians, neurologists, pathologists, and any phy- and malformation syndromes. A detailed outline of cians and health care professionals caring for each disorder is provided, describing the genetics, handicapped children such as craniofacial surgeons, basic defects, clinical features, diagnostic investiga- plastic surgeons, otolaryngologists, and orthopedics. tions, and genetic counseling, including recurrence I am grateful to many individuals for their risk, prenatal diagnosis, and management. Color invaluable help in reading and providing cases for photographs are used to illustrate the clinical fea- illustration.show more

Product details

  • Hardback | 1076 pages
  • 228.6 x 287 x 53.3mm | 3,787.54g
  • Humana Press Inc.
  • Totowa, NJ, United States
  • English
  • 1500 black & white illustrations, 615 colour illustrations, biography
  • 1588296814
  • 9781588296818

Review quote

"...a high quality book, with excellent clinical information." -Weighted Numerical Score: 81 - 3 Stars!-Doody's Health Science Book Review Journal "...an excellent contribution to the field of dysmorphology. It differs from others in the field in the simplicity of presentation of the information, which makes it useful to a wide variety of physicians." -Weighted Numerical Score: 81 - 3 Stars!-Doody's Health Science Book Review Journal "...help neonatologists, obstetricians and pediatricians to reach a diagnosis and handle the genetic entity." - Pediatric Endocrinology Reviews "...provide solid starting points for workers and will be especially valuable for students, residents, fellows, general practitioners, or others who do not encounter malformations regularly." -Pediatric and Developmental Pathologyshow more

Back cover copy

Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 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. Also available in a CD-ROM edition (ISBN: 1-58829-974-5).Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients.show more

Table of contents

Acardia 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 Anomaly Branchial Cleft Anomalies 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 Hypothyroidism Congenital Muscular Dystrophy Congenital Toxoplasmosis Conjoined Twins Corpus Callosum Agenesis/Dysgenesis Craniometaphyseal 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) DysplasiaEpiphysealis Hemimelica Dystonia Dystrophinopathies Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome Ehlers-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 Fetal Hydantoin 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 Syndromeshow more