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Dictionary of syndromes and inherited disorder's Patricia Gilbert, editor.

Colaborador(es): Detalles de publicación: Illinois Fitzroy Dearborn Publishers c2000.Edición: 3rd edISBN:
  • 1579582265
Tema(s): Clasificación CDD:
  • 616.043 D554
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Imagen de cubierta Tipo de ítem Biblioteca actual Biblioteca de origen Colección Ubicación en estantería Signatura topográfica Materiales especificados Info Vol URL Copia número Estado Notas Fecha de vencimiento Código de barras Reserva de ítems Prioridad de la cola de reserva de ejemplar Reservas para cursos
Libro Biblioteca de Mayagüez Sala de Referencia mb RC69 .G55 2000 (Navegar estantería(Abre debajo)) Disponible 50000002135134
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Soon to be published in its Third Edition, this now established reference work has been expanded to include additional syndromes and further information to aid the reader in contacting self-help groups. Dictionary of Syndromes and Inherited Disorders provides a practical reference for those with a syndrome or inherited disorder and for their caregivers. It describes the disorders and problems of both child and adult, and considers the day-to-day management of these conditions. It is written in non-technical language, so as to be comprehensible for a general audience, but with enough detail for the medical and nursing professions. The text is well indexed and has an extensive glossary.

Includes bibliographical references and index.

Rev ed. of: The A-Z reference book of syndromes and inherited disorders / Patricia Gilbert. 2nd ed. 1996.

Tabla de contenidos provista por Syndetics

  • Foreword(p. ix)
  • Preface(p. xi)
  • Preface to the Third Edition(p. xiii)
  • Acknowledgments(p. xv)
  • The Effects of Handicap(p. 1)
  • Achondroplasia(p. 9)
  • Aicardi Syndrome(p. 14)
  • Albinism(p. 18)
  • Albright Syndrome(p. 21)
  • Alport Syndrome(p. 25)
  • Angelman Syndrome(p. 29)
  • Ankylosing Spondylitis(p. 32)
  • Apert Syndrome(p. 35)
  • Arthrogryposis(p. 38)
  • Asperger Syndrome(p. 41)
  • Ataxia Telangiectasia(p. 45)
  • Batten Disease(p. 48)
  • Beckwith-Wiedemann Syndrome(p. 52)
  • Charcot-Marie-Tooth Disease(p. 56)
  • CHARGE Association(p. 59)
  • Christmas Disease(p. 63)
  • Cockayne Syndrome(p. 66)
  • Coffin-Lowry Syndrome(p. 68)
  • Cohen Syndrome(p. 70)
  • Congenital Central Hypoventilation Syndrome(p. 73)
  • Cornelia De Lange Syndrome(p. 76)
  • Cri Du Chat Syndrome(p. 79)
  • Crouzon Syndrome(p. 82)
  • Cystic Fibrosis(p. 85)
  • Down Syndrome(p. 90)
  • Duchenne Muscular Dystrophy(p. 95)
  • Edwards Syndrome(p. 99)
  • Ehlers-Danlos Syndrome(p. 102)
  • Ellis-Van Creveld Syndrome(p. 106)
  • Epidermolysis Bullosa(p. 109)
  • Fabry Disease(p. 112)
  • Fetal Alcohol Syndrome(p. 115)
  • Fragile X Syndrome(p. 118)
  • Friedrich Ataxia(p. 121)
  • Galactosemia(p. 124)
  • Gaucher Disease(p. 127)
  • Goldenhar Syndrome(p. 130)
  • Gorlin Syndrome(p. 134)
  • Guillain-Barre Syndrome(p. 136)
  • Hemolytic Uremic Syndrome(p. 138)
  • Hemophilia A(p. 142)
  • Holt-Oram Syndrome(p. 146)
  • Homocystinuria(p. 149)
  • Hunter Syndrome(p. 152)
  • Hurler Syndrome(p. 156)
  • Hypertrophic Cardiomyopathy(p. 160)
  • Icthyosis(p. 164)
  • Johanson-Blizzard Syndrome(p. 166)
  • Kartagener Syndrome(p. 169)
  • Klinefelter Syndrome(p. 173)
  • Klippel-Feil Syndrome(p. 176)
  • Landau-Kleffner Syndrome(p. 179)
  • Laurence-Moon-Bardet-Biedl Syndrome(p. 182)
  • Lennox-Gastaut Syndrome(p. 186)
  • LEOPARD Syndrome(p. 190)
  • Lowe Syndrome(p. 193)
  • Marfan Syndrome(p. 196)
  • Moebius Syndrome(p. 200)
  • Morquio Syndrome(p. 203)
  • Nephrotic Syndrome(p. 207)
  • Neurofibromatosis(p. 211)
  • Niemann-Pick Disease(p. 216)
  • Noonan Syndrome(p. 220)
  • Ollier Disease(p. 224)
  • Osteogenesis Imperfecta(p. 227)
  • Patau Syndrome(p. 231)
  • Phenylketonuria(p. 234)
  • Pierre-Robin Syndrome(p. 237)
  • Prader-Willi Syndrome(p. 240)
  • Retinitis Pigmentosa(p. 244)
  • Rett Syndrome(p. 247)
  • Reye Syndrome(p. 250)
  • Riley-Day Syndrome(p. 253)
  • Rubinstein-Taybi Syndrome(p. 256)
  • Sanfilippo Syndrome(p. 259)
  • Shwachman Syndrome(p. 262)
  • Sickle Cell Anemia(p. 265)
  • Silver-Russell Syndrome(p. 270)
  • Sjogren-Larsson Syndrome(p. 273)
  • Smith-Lemli-Opitz Syndrome(p. 276)
  • Smith-Magenis Syndrome(p. 279)
  • Sotos Syndrome(p. 282)
  • Spinal Muscular Atrophy(p. 285)
  • Stickler Syndrome(p. 289)
  • Sturge-Weber Syndrome(p. 292)
  • TAR Syndrome(p. 294)
  • Tay-Sachs Disease(p. 298)
  • Thalassemia(p. 301)
  • Tourette Syndrome(p. 305)
  • Treacher Collins Syndrome(p. 308)
  • Tuberous Sclerosis(p. 311)
  • Turner Syndrome(p. 314)
  • Usher Syndrome(p. 319)
  • VATER Association(p. 323)
  • Vitiligo(p. 326)
  • Waardenburg Syndrome(p. 328)
  • West Syndrome(p. 332)
  • Williams Syndrome(p. 335)
  • Wolf-Hirshhorn Syndrome(p. 338)
  • Zollinger-Ellison Syndrome(p. 341)
  • Glossary(p. 345)
  • Index(p. 351)

Reseñas proporcionadas por Syndetics

CHOICE Review

In the preface to this edition, Gilbert (Warwick Univ., UK) makes clear that her work is a subset of known syndromes, not an exhaustive scholarly coverage of medical syndromes. The inclusion criteria are that syndromes must result in long-term mental or physical problems and that organizations must exist that patients and their families can consult or actions they can take to help improve quality of life. The resource therefore contains 100 alphabetically arranged entries, many of which relate to signs and symptoms seen in childhood that continue throughout life. Compared to the thousands of entries and cross-references in standard resources like Stanley Jablonski's Dictionary of Syndromes and Eponymic Diseases (2d ed., 1991) or Sergio Magalini's Dictionary of Medical Syndromes (4th ed., 1997), Gilbert's book seems brief. It also lacks the bibliographic references that both Jablonski and Magalini provide for each entry. Gilbert's entries, however, helpfully expand on important aspects of medical syndromes: alternative names, frequency of occurrence, history, causes, characteristics, management implications, self-help groups, quality of life, and life span for patients. The book contains a glossary of highly technical and more common medical terms and an extensive index. Recommended for undergraduates and nonmedical professionals seeking to learn the fundamentals about relatively well-known medical syndromes. R. D. McKinney; University of Chicago

Booklist Review

The first U.S. edition (3d in the U.K.) of this dictionary lists 100 syndromes and inherited disorders that result in long-term or lifelong mental and physical problems. The disorders selected for inclusion are those for which help is available to alleviate some of the associated problems. Entries are arranged alphabetically from Achondroplasia to Zollinger-Ellison Syndrome and run from two to four pages. They include the condition's alternative name, incidence, history, causation, and characteristics. Management implications are covered from an interdisciplinary perspective and include medical, nursing, social-work, and educational aspects. Self-help and support groups (one or two) are listed. The dictionary would complement Grey House's The Complete Directory for People with Rare Disorders, which lists disorder-specific and organizational groups as well as government agencies that support individuals with rare disorders. Health-care and social-work professionals are the intended audience for Dictionary of Syndromes and Inherited Disorders. Health-science libraries may find it useful as a quick reference tool. A random check of the Internet brought up numerous recent authoritative Web sites covering many of the included disorders, and one wonders how long this type of reference book will remain relevant.
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