Die 4. Auflage dieses Praktikerbuchs ist hochaktuell, bleibt aber ihren Ursprüngen treu. Zu jedem der 59 Krankheitsbilder gibt es aktuelle Informationen zu Identifikation (auch mit neuen Diagnosekriterien), genetischen Grundlagen, Diagnosetests und Management.
Die 4. Auflage dieses Praktikerbuchs ist hochaktuell, bleibt aber ihren Ursprüngen treu. Zu jedem der 59 Krankheitsbilder gibt es aktuelle Informationen zu Identifikation (auch mit neuen Diagnosekriterien), genetischen Grundlagen, Diagnosetests und Management.
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.
Inhaltsangabe
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: alpha 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
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
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: alpha 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
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 &
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