Atlas of genetic diagnosis and counseling

著者

    • Chen, Harold

書誌事項

Atlas of genetic diagnosis and counseling

Harold Chen

Humana Press, c2006

大学図書館所蔵 件 / 全9件

この図書・雑誌をさがす

注記

Includes bibliographical references

内容説明・目次

内容説明

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.

目次

  • 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 Syndrome

「Nielsen BookData」 より

詳細情報

ページトップへ