Autor(es): CASSIDY
Editorial: WILEY
Fecha de publicación: mayo 2010
Nº de edición:
Nº de páginas: 984
Medidas: 22x29x5 cms



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The bestselling guide to the medical management of commongenetic syndromes now fully revised and expanded

A review in theAmerican Journal of Medical Genetics heralded the first edition of Managementof Genetic Syndromes as an "unparalleled collection of knowledge." Sincepublication of the first edition, improvements in the molecular diagnostictesting of genetic conditions have greatly facilitated the identification ofaffected individuals. This thorough revision of the critically acclaimedbestseller offers original insights into the medical management of sixty commongenetic syndromes seen in children and adults, and incorporates new researchfindings and the latest advances in diagnosis and treatment of these disorders.

Expanded to cover five new syndromes, this comprehensive newedition also features updates of chapters from the previous editions. Eachchapter is written by an expert with extensive direct professional experiencewith that disorder and incorporates thoroughly updated material on new geneticfindings, consensus diagnostic criteria, and management strategies. Edited bytwo of the field's most highly esteemed experts, this landmark volume provides:

  • A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families

  • Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management

  • A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis

  • Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews

  • A list of family support organizations and resources for professionals and families

Management of Genetic Syndromes, Third Edition is a premiersource to guide family physicians, pediatricians, internists, medicalgeneticists, and genetic counselors in the clinical evaluation and treatment ofsyndromes. It is also the reference of choice for ancillary healthprofessionals, educators, and families of affected individuals looking tounderstand appropriate guidelines for the management of these disorders.

From a review of the first edition:

"An unparalleled collection of knowledge . . . unique,offering a gold mine of information." American Journal of MedicalGenetics

Table of Contents

  • Foreword to the Third Edition.

  • Foreword to the Second Edition.

  • Foreword to the First Edition.

  • Preface.

  • List of Contributors.

  • Dedication.

  • Introduction (Suzanne B. Cassidy and Judith E. Allanson).

  • Aarskog Syndrome (Roger E. Stevenson).

  • Achrondroplasia (Richard M. Pauli).

  • Alagille Syndrome (Binita M. Kamath and Ian D. Krantz).

  • Albinism: Ocular and Oculocutaneous Albinism and Hermansky Pudlak Syndrome (Richard A. King and C. Gail Summers).

  • Angelman Syndrome (Charles A. Williams and Aditi Dagli).

  • Arthrogryposis (Judith G. Hall).

  • ATR-X (Alpha-Thalassemia Mental Retardation-X-Linked) (Richard J. Gibbons).

  • Bardet-Biedl Syndrome (Anne M. Slavotinek).

  • Beckwith-Wiedemann Syndrome and Hemihyperplasia (Rosanna Weksberg, Cheryl Shuman, and Bruce Beckwith).

  • Cardio-Facio-Cutaneous Syndrome (Maria Inês Kavamura and Giovanni Neri).

  • CHARGE Syndrome (Christine A. Oley).

  • Coffin-Lowry Syndrome (Alasdair G.W. Hunter).

  • Cohen Syndrome (Kate Chandler and Jill Clayton-Smith).

  • Cornelia de Lange Syndrome (David R. FitzPatrick and Antonie D. Kline).

  • Costello Syndrome (Bronwyn Kerr, Karen W. Gripp and Angela E. Lin).

  • Craniosynostosis Syndromes (Karen W. Gripp and Elaine H. Zackai).

  • Deletion 1p36 Syndrome (Agatino Battaglia).

  • Deletion 4p Syndrome: Wolf-Hirschhorn Syndrome (Agatino Battaglia).

  • Deletion 22q11.2: Velo-Cardio-Facial Syndrome/DiGeorge Syndrome (Donna M. McDonald-McGinn, Taisa Kohut and Elaine Zackai).

  • Deletion 22q13 Syndrome: Phelan-McDermid Syndrome (Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers).

  • Denys-Drash and Frasier Syndromes (Carol L. Clericuzio).

  • Down Syndrome (Alasdair G.W. Hunter).

  • Ehlers-Danlos Syndromes (Brad T. Tinkle and Carrie L. Atzinger).

  • Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder (Albert E. Chudley and Sally E. Longstaffe).

  • Fetal Anticonvulsant Syndrome (H. Eugene Hoyme, Renata C. Gallagher, and Kerry Kingham).

  • Fragile X Syndrome and Premutation-Associated Disorders (Randi J. Hagerman).

  • Gorlin Syndrome (Nevoid Basal Cell Carcinoma Syndrome) (Peter Farndon).

  • Hereditary Hemorrhagic Telangiectasia (Mary E.M. Porteous and Jonathan N. Berg).

  • Holoprosencephaly (Andrea L. Gropman and Maximilian Muenke).

  • Incontinentia Pigmenti (Dian Donnai).

  • Kabuki Syndrome (Sarah Dugan and Louanne Hudgins).

  • Klinefelter Syndrome (Jeannie Visootsak, John M. Graham Jr., Carole Samango-Sprouse, Ronald Swerdloff, and Joe Leigh Simpson).

  • Marfan Syndrome (Uta Francke).

  • Mowat-Wilson Syndrome (David Mowat and Meredith Wilson).

  • Myotonic Dystrophy Type I (Christine E.M. de Die Smulders, Frans G.I. Jennekens and Carin G. Faber).

  • Neurofibromatosis Type 1 (David Viskochil).

  • Noonan Syndrome (Judith E. Allanson).

  • Oculo-Auriculo-Vertebral Spectrum (Koenraad Devriendt, Luc de Smet and Ingele Casteels).

  • Osteogenesis Imperfecta (Joan C. Marini).

  • Pallister-Hall and Greig Cephalopolysyndactyly Syndromes (Leslie G. Biesecker).

  • Prader-Willi Syndrome (Suzanne B. Cassidy and Shawn E. McCandless).

  • Proteus Syndrome (Leslie G. Biesecker).

  • PTEN-Hamartoma Tumor Syndromes (Emily Edelman and Charis Eng).

  • Rett Syndrome (Eric E. Smeets and Connie T.R.M. Schrander-Stumpel).

  • Robin Sequence (Howard M. Saal).

  • Rubinstein-Taybi Syndrome (Raoul C.M. Hennekam).

  • Russell-Silver Syndrome (Howard M. Saal).

  • Smith-Lemli-Opitz Syndrome (Christopher Cunniff).

  • Smith-Magenis Syndrome (Ann C.M. Smith and Andrea Gropman).

  • Sotos Syndrome (Trevor R.P. Cole).

  • Stickler Syndrome (Clair Francomano).

  • Treacher Collins Syndrome and Related Disorders (Marilyn C. Jones).

  • Trisomy 18 and Trisomy 13 Syndromes (John C. Carey).

  • Tuberous Sclerosis Complex (Hope Northrup, Michael J. Gambello, Kit Sing Au, and Mary Kay Koenig).

  • Turner Syndrome (Marsha L. Davenport).

  • VATER/VACTERL Association (Bryan D. Hall).

  • Von Hippel-Lindau Syndrome (R. Neil Schimke and Debra L. Collins).

  • WAGR Syndrome (Carol L. Clericuzio).

  • Williams Syndrome (Colleen A. Morris).

  • INDEX.



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