Cassidy and Allanson's Management of Genetic Syndromes

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.

• Foreword to the Fourth Edition xiForeword to the Third Edition xiiiForeword to the Second Edition xvForeword to the First Edition xviiPreface xixList of Contributors xxiIntroduction xxvii1 Aarskog Syndrome 1Roger E. Stevenson2 Achondroplasia 9Richard M. Pauli and Lorenzo Botto3 Alagille Syndrome 31Henry C. Lin and Ian D. Krantz4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky–Pudlak Syndrome 45C. Gail Summers and David R. Adams5 Angelman Syndrome 61Charles A. Williams and Jennifer M. Mueller-Mathews6 Arthrogryposis 75Judith G. Hall7 ATR-X: α Thalassemia/Mental Retardation-X-Linked 93Richard J. Gibbons8 Bardet–Biedl Syndrome 107Anne M. Slavotinek9 Beckwith–Wiedemann Syndrome and Hemihyperplasia 125Cheryl Shuman and Rosanna Weksberg10 Cardio-Facio-Cutaneous Syndrome 147Maria Inês Kavamura and Giovanni Neri11 CHARGE Syndrome 157Donna M. Martin, Christine A. Oley, and Conny M. van Ravenswaaij-Arts12 Coffin–Lowry Syndrome 171R. Curtis Rogers13 Coffin–Siris Syndrome 185Tomoki Kosho and Noriko Miyake14 Cohen Syndrome 195Kate E. Chandler15 Cornelia de Lange Syndrome 207Antonie D. Kline and Matthew Deardorff16 Costello Syndrome 225Bronwyn Kerr, Karen W. Gripp, and Emma M.M. Burkitt Wright17 Craniosynostosis Syndromes 241Elizabeth J. Bhoj and Elaine H. Zackai18 Deletion 1p36 Syndrome 253Agatino Battaglia19 Deletion 4p: Wolf–Hirschhorn Syndrome 265Agatino Battaglia20 Deletion 5p Syndrome 281Antonie D. Kline, Joanne M. Nguyen, and Dennis J. Campbell21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome) 291Donna M. McDonald-McGinn, Stephanie Jeong, Michael-John McGinn II, Elaine H. Zackai, and Marta Unolt22 Deletion 22q13 Syndrome: Phelan–McDermid Syndrome 317Katy Phelan, R. Curtis Rogers, and Luigi Boccuto23 Denys–Drash Syndrome, Frasier Syndrome, and WAGR Syndrome (WT1-related Disorders) 335Joyce T. Turner and Jeffrey S. Dome24 Down Syndrome 355Aditi Korlimarla, Sarah J. Hart, Gail A. Spiridigliozzi, and Priya S. Kishnani25 Ehlers–Danlos Syndromes 389Brad T. Tinkle26 Fetal Alcohol Spectrum Disorders 405H. Eugene Hoyme and Prachi E. Shah27 Fetal Anticonvulsant Syndrome 425Elizabeth A. Conover, Omar Abdul-Rahman, and H. Eugene Hoyme28 Fragile X Syndrome and Premutation-Associated Disorders 443Randi J. Hagerman29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome 459Peter A. Farndon and D. Gareth Evans30 Hereditary Hemorrhagic Telangiectasia 475Jonathan N. Berg and Anette D. Kjeldsen31 Holoprosencephaly 487Paul Kruszka, Andrea L. Gropman, and Maximilian Muenke32 Incontinentia Pigmenti 505Dian Donnai and Elizabeth A. Jones33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15) 515Agatino Battaglia34 Kabuki Syndrome 529Sarah Dugan35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosomal Conditions 539Carole Samango-Sprouse, John M. Graham Jr, Debra R. Counts, and Jeannie Visootsak36 Loeys–Dietz Syndrome 563Aline Verstraeten, Harry C. Dietz, and Bart L. Loeys37 Marfan Syndrome 577Uta Francke38 Mowat–Wilson Syndrome 597David Mowat and Meredith Wilson39 Myotonic Dystrophy Type 1 611Isis B.T. Joosten, Kees Okkersen, Baziel G.M. van Engelen, and Catharina G. Faber40 Neurofibromatosis Type 1 629David Viskochil41 Noonan Syndrome 651Judith E. Allanson and Amy E. Roberts42 Oculo-Auriculo-Vertebral Spectrum 671Koenraad Devriendt, Luc De Smet, and Ingele Casteels43 Osteogenesis Imperfecta 683An N. Dang Do and Joan C. Marini44 Pallister–Hall Syndrome and Greig Cephalopolysyndactyly Syndrome 707Leslie G. Biesecker45 Pallister–Killian Syndrome 717Emanuela Salzano, Sarah E. Raible, and Ian D. Krantz46 Prader–Willi Syndrome 735Shawn E. McCandless and Suzanne B. Cassidy47 Proteus Syndrome 763Leslie G. Biesecker48 PTEN Hamartoma Tumor Syndrome 775Joanne Ngeow and Charis Eng49 Rett Syndrome 791Eric E. Smeets50 Robin Sequence 807Howard M. Saal51 Rubinstein–Taybi Syndrome 823Leonie A. Menke and Raoul C. M. Hennekam52 Silver–Russell Syndrome 837Emma L. Wakeling53 Smith–Lemli–Opitz Syndrome 851Alicia Latham and Christopher Cunniff54 Smith–Magenis Syndrome 863Ann C.M. Smith and Andrea L. Gropman55 Sotos Syndrome 895Trevor R.P. Cole and Alison C. Foster56 Stickler Syndrome 915Mary B. Sheppard and Clair A. Francomano57 Treacher Collins Syndrome and Related Disorders 927Marilyn C. Jones58 Trisomy 18 and Trisomy 13 Syndromes 937John C. Carey59 Tuberous Sclerosis Complex 957Laura S. Farach, Kit Sing Au, and Hope Northrup60 Turner Syndrome 977Angela E. Lin and Melissa L. Crenshaw61 VATER/VACTERL Association 995Benjamin D. Solomon and Bryan D. Hall62 Von Hippel–Lindau Syndrome 1005Samantha E. Greenberg, Luke D. Maese, and Benjamin L. Maughan63 Williams Syndrome 1021Colleen A. Morris and Carolyn B. MervisIndex 1039