Details

Cassidy and Allanson's Management of Genetic Syndromes

4. Aufl.

von: John C. Carey, Suzanne B. Cassidy, Agatino Battaglia, David Viskochil
215,99 €
Verlag:	Wiley-Blackwell
Format:	EPUB
Veröffentl.:	22.10.2020
ISBN/EAN:	9781119432654
Sprache:	englisch
Anzahl Seiten:	1104

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Beschreibungen

Titelbeschreibung

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: <ul><li>Incidence</li> <li>Diagnostic criteria</li> <li>Etiology, pathogenesis and genetics</li> <li>Diagnostic testing</li> <li>Differential diagnosis</li> <li>Manifestations and Management (by system)</li></ul> The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

Inhaltsverzeichnis

Foreword to the Fourth Edition xi Foreword to the Third Edition xiii Foreword to the Second Edition xv Foreword to the First Edition xvii Preface xix List of Contributors xxi Introduction xxvii 1 Aarskog Syndrome 1 Roger E. Stevenson 2 Achondroplasia 9 Richard M. Pauli and Lorenzo Botto 3 Alagille Syndrome 31 Henry C. Lin and Ian D. Krantz 4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky–Pudlak Syndrome 45 C. Gail Summers and David R. Adams 5 Angelman Syndrome 61 Charles A. Williams and Jennifer M. Mueller-Mathews 6 Arthrogryposis 75 Judith G. Hall 7 ATR-X: α Thalassemia/Mental Retardation-X-Linked 93 Richard J. Gibbons 8 Bardet–Biedl Syndrome 107 Anne M. Slavotinek 9 Beckwith–Wiedemann Syndrome and Hemihyperplasia 125 Cheryl Shuman and Rosanna Weksberg 10 Cardio-Facio-Cutaneous Syndrome 147 Maria Inês Kavamura and Giovanni Neri 11 CHARGE Syndrome 157 Donna M. Martin, Christine A. Oley, and Conny M. van Ravenswaaij-Arts 12 Coffin–Lowry Syndrome 171 R. Curtis Rogers 13 Coffin–Siris Syndrome 185 Tomoki Kosho and Noriko Miyake 14 Cohen Syndrome 195 Kate E. Chandler 15 Cornelia de Lange Syndrome 207 Antonie D. Kline and Matthew Deardorff 16 Costello Syndrome 225 Bronwyn Kerr, Karen W. Gripp, and Emma M.M. Burkitt Wright 17 Craniosynostosis Syndromes 241 Elizabeth J. Bhoj and Elaine H. Zackai 18 Deletion 1p36 Syndrome 253 Agatino Battaglia 19 Deletion 4p: Wolf–Hirschhorn Syndrome 265 Agatino Battaglia 20 Deletion 5p Syndrome 281 Antonie D. Kline, Joanne M. Nguyen, and Dennis J. Campbell 21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) 291 Donna M. McDonald-McGinn, Stephanie Jeong, Michael-John McGinn II, Elaine H. Zackai, and Marta Unolt 22 Deletion 22q13 Syndrome: Phelan–McDermid Syndrome 317 Katy Phelan, R. Curtis Rogers, and Luigi Boccuto 23 Denys–Drash Syndrome, Frasier Syndrome, and WAGR Syndrome (WT1-related Disorders) 335 Joyce T. Turner and Jeffrey S. Dome 24 Down Syndrome 355 Aditi Korlimarla, Sarah J. Hart, Gail A. Spiridigliozzi, and Priya S. Kishnani 25 Ehlers–Danlos Syndromes 389 Brad T. Tinkle 26 Fetal Alcohol Spectrum Disorders 405 H. Eugene Hoyme and Prachi E. Shah 27 Fetal Anticonvulsant Syndrome 425 Elizabeth A. Conover, Omar Abdul-Rahman, and H. Eugene Hoyme 28 Fragile X Syndrome and Premutation-Associated Disorders 443 Randi J. Hagerman 29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome 459 Peter A. Farndon and D. Gareth Evans 30 Hereditary Hemorrhagic Telangiectasia 475 Jonathan N. Berg and Anette D. Kjeldsen 31 Holoprosencephaly 487 Paul Kruszka, Andrea L. Gropman, and Maximilian Muenke 32 Incontinentia Pigmenti 505 Dian Donnai and Elizabeth A. Jones 33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15) 515 Agatino Battaglia 34 Kabuki Syndrome 529 Sarah Dugan 35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosomal Conditions 539 Carole Samango-Sprouse, John M. Graham Jr, Debra R. Counts, and Jeannie Visootsak 36 Loeys–Dietz Syndrome 563 Aline Verstraeten, Harry C. Dietz, and Bart L. Loeys 37 Marfan Syndrome 577 Uta Francke 38 Mowat–Wilson Syndrome 597 David Mowat and Meredith Wilson 39 Myotonic Dystrophy Type 1 611 Isis B.T. Joosten, Kees Okkersen, Baziel G.M. van Engelen, and Catharina G. Faber 40 Neurofibromatosis Type 1 629 David Viskochil 41 Noonan Syndrome 651 Judith E. Allanson and Amy E. Roberts 42 Oculo-Auriculo-Vertebral Spectrum 671 Koenraad Devriendt, Luc De Smet, and Ingele Casteels 43 Osteogenesis Imperfecta 683 An N. Dang Do and Joan C. Marini 44 Pallister–Hall Syndrome and Greig Cephalopolysyndactyly Syndrome 707 Leslie G. Biesecker 45 Pallister–Killian Syndrome 717 Emanuela Salzano, Sarah E. Raible, and Ian D. Krantz 46 Prader–Willi Syndrome 735 Shawn E. McCandless and Suzanne B. Cassidy 47 Proteus Syndrome 763 Leslie G. Biesecker 48 PTEN Hamartoma Tumor Syndrome 775 Joanne Ngeow and Charis Eng 49 Rett Syndrome 791 Eric E. Smeets 50 Robin Sequence 807 Howard M. Saal 51 Rubinstein–Taybi Syndrome 823 Leonie A. Menke and Raoul C. M. Hennekam 52 Silver–Russell Syndrome 837 Emma L. Wakeling 53 Smith–Lemli–Opitz Syndrome 851 Alicia Latham and Christopher Cunniff 54 Smith–Magenis Syndrome 863 Ann C.M. Smith and Andrea L. Gropman 55 Sotos Syndrome 895 Trevor R.P. Cole and Alison C. Foster 56 Stickler Syndrome 915 Mary B. Sheppard and Clair A. Francomano 57 Treacher Collins Syndrome and Related Disorders 927 Marilyn C. Jones 58 Trisomy 18 and Trisomy 13 Syndromes 937 John C. Carey 59 Tuberous Sclerosis Complex 957 Laura S. Farach, Kit Sing Au, and Hope Northrup 60 Turner Syndrome 977 Angela E. Lin and Melissa L. Crenshaw 61 VATER/VACTERL Association 995 Benjamin D. Solomon and Bryan D. Hall 62 Von Hippel–Lindau Syndrome 1005 Samantha E. Greenberg, Luke D. Maese, and Benjamin L. Maughan 63 Williams Syndrome 1021 Colleen A. Morris and Carolyn B. Mervis Index 1039

Autorenportrait

JOHN C. CAREY, Professor of Pediatrics, Department of Pediatrics, Division of Medical Genetics, University of Utah. AGATINO BATTAGLIA, Head of Research in Neuropsychiatric Genetics, IRCCS Stella Maris Foundation, Pisa, Italy. DAVID VISKOCHIL, Professor of Pediatrics, Department of Pediatrics, Division of Medical Genetics, University of Utah. SUZANNE B. CASSIDY, Clinical Professor of Pediatrics Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco.

Back cover copy

THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: <ul><li>Incidence</li> <li>Diagnostic criteria</li> <li>Etiology, pathogenesis and genetics</li> <li>Diagnostic testing</li> <li>Differential diagnosis</li> <li>Manifestations and Management (by system)</li></ul> The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.