图书简介
This fourth edition of the book Cassidys and Allansons Management of Genetic Syndromes will be unchanged in character but will be current in its content. It will include updated information on identification (including newly-developed diagnostic criteria), genetic basis and diagnostic testing, and management for each of the 59 included disorders. The aims of this book have not changed: to provide a resource on diagnosis, genetic counseling and management for medical professionals (medical geneticists, genetic counselors, and primary care providers) caring for individuals of all ages affected by relatively common genetic syndromes. It will continue to exclude traditional metabolic disorders, which are well-covered in other resources. The format will remain essentially unchanged, though the editors will once again examine the feasibility of a brief tabular summary of recommended evaluations at the end of each chapter. (Ideally these concise summaries could be available and freely accessible online). Again, each chapter will be organized in the same manner and cover the same general topics. In addition, there will be an increase in the number of disorders slightly to approximately 60 as a result of new expertise, newly recognized conditions, and conditions whose frequency has recently been recognized to be higher than previously realized.The rationale for a new edition is to assure that information is up to date in the rapidly changing field of medical genetics and genetic diagnostic testing. The sales figures for the prior editions, and the enthusiasm with which they were received, indicate that there is a strong need for this book on the topic of managing genetic syndromes. The relatively recent availability of even more sophisticated molecular diagnostic testing for an exponentially increasing number of genetic conditions has increased the number of individuals who are identified as having them, and has made it even more imperative for primary care providers and genetic practitioners to have access to information about their appropriate management.
FOREWORD TO THE FOURTH EDITION FOREWORD TO THE THIRD EDITION FOREWORD TO THE SECOND EDITION FOREWORD TO THE FIRST EDITION PREFACE CONTRIBUTORS INTRODUCTION 1 Aarskog Syndrome Roger E. Stevenson 2 Achondroplasia Richard M. Pauli and Lorenzo Botto 3 Alagille Syndrome Henry Lin and Ian D. Krantz 4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome C. Gail Summers and David R. Adams 5 Angelman Syndrome Charles A. Williams and Jennifer M. Mueller-Mathews 6 Arthrogryposis Judith G. Hall 7 ATR-X: -Thalassemia Mental Retardation-X-Linked Richard J. Gibbons 8 Bardet-Biedl Syndrome Anne M. Slavotinek 9 Beckwith-Wiedemann Syndrome and Hemihyperplasia Rosanna Weksberg and Cheryl Shuman 10 Cardio-Facio-Cutaneous Syndrome Maria Ines Kavamura and Giovanni Neri 11 CHARGE Syndrome Donna M. Martin, Christine A. Oley and Conny M. A. van Ravenswaaij-Arts 12 Coffin-Lowry Syndrome R. Curtis Rogers 13 Coffin-Siris Syndrome Tomoki Kosho and Noriko Miyake 14 Cohen Syndrome Kate E. Chandler 15 Cornelia de Lange Syndrome Antonie D. Kline and Matthew Deardorff 16 Costello Syndrome Bronwyn Kerr, Karen W. Gripp and Emma M.M. Burkitt-Wright 17 Craniosynostosis Syndromes Elizabeth J. Bhoj and Elaine H. Zackai 18 Deletion 1p36 Syndrome Agatino Battaglia 19 Deletion 4p: Wolf-Hirschhorn Syndrome Agatino Battaglia 20 Deletion 5p Syndrome Antonie D. Kline, Joanne M. Nguyen, and Dennis J. Campbell 21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) Donna M. McDonald-McGinn, Stephanie Jeong, Michael J. McGinn II, Elaine H. Zackai, and Marta Unolt 22 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome Katy Phelan, R. Curtis Rogers, and Luigi Boccuto 23 Denys-Drash, Frasier, and WAGR Syndromes (WT1-related Disorders) Joyce T. Turner and Jeffrey S. Dome 24 Down Syndrome Aditi Korlimarla, Sarah J. Hart, Gail Spiridigliozzi, and Priya S. Kishnani 25 Ehlers-Danlos Syndromes Brad T. Tinkle 26 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder H. Eugene Hoyme and Prachi E. Shah 27 Fetal Anticonvulsant Syndrome Elizabeth A. Conover, Omar A. Rahman, and H. Eugene Hoyme 28 Fragile X Syndrome and Premutation-Associated Disorders Randi J. Hagerman 29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome Peter A. Farndon and D. Gareth Evans 30 Hereditary Hemorrhagic Telangiectasia Jonathan N. Berg and Anette D. Kjeldsen 31 Holoprosencephaly Andrea L. Gropman and Maximilian Muenke 32 Incontinentia Pigmenti Dian Donnai and Elizabeth A. Jones 33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15) Agatino Battaglia 34 Kabuki Syndrome Sarah Dugan 35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosome Conditions Carole Samango-Sprouse, John M. Graham Jr, Debra R. Counts, and Jeannie Visootsak 36 Loeys-Dietz Syndrome Aline Verstraeten, Harry C. Dietz, and Bart L. Loeys 37 Marfan Syndrome Uta Francke 38 Mowat-Wilson Syndrome David Mowat and Meredith Wilson 39 Myotonic Dystrophy Type 1 Isis B.T. Joosten, Kees Okkersen, Baziel G.M. van Engelen, and Catharina G. Faber 40 Neurofibromatosis Type 1 David Viskochil 41 Noonan Syndrome Judith E. Allanson and Amy E. Roberts 42 Oculo-Auriculo-Vertebral Spectrum Koenraad Devriendt, Luc de Smet, and Ingele Casteels 43 Osteogenesis Imperfecta An N. Dang Do and Joan C. Marini 44 Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome Leslie G. Biesecker 45 Pallister-Killian Syndrome Emanuela Salzano, Sarah E. Raible, and Ian D. Krantz 46 Prader-Willi Syndrome Shawn E. McCandless and Suzanne B. Cassidy 47 Proteus Syndrome Leslie G. Biesecker 48 PTEN Hamartoma Tumor Syndrome Joanne Ngeow and Charis Eng 49 Rett Syndrome Eric E. Smeets 50 Robin Sequence Howard M. Saal 51 Rubinstein-Taybi Syndrome Leonie A. D. Menke and Raoul C. M. Hennekam 52 Silver-Russell Syndrome Emma L. Wakeling 53 Smith-Lemli-Opitz Syndrome Alicia Latham Schwark and Christopher Cunniff 54 Smith-Magenis Syndrome Ann C.M. Smith and Andrea Gropman 55 Sotos Syndrome Trevor R.P. Cole and Alison C. Foster 56 Stickler Syndrome Mary B. Sheppard and Clair A. Francomano 57 Treacher Collins Syndrome and Related Disorders Marilyn C. Jones 58 Trisomy 18 and Trisomy 13 Syndromes John C. Carey 59 Tuberous Sclerosis Complex Laura S. Farach, Kit Sing Au, and Hope Northrup 60 Turner Syndrome Angela E. Lin and Melissa L. Crenshaw 61 Vater/Vacterl Association Benjamin Solomon and Bryan D. Hall 62 von Hippel-Lindau Syndrome Samantha Greenberg, Luke Maese, and Benjamin Maughan 63 Williams Syndrome Colleen A. Morris and Carolyn B. Mervis INDEX
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