Cassidy and Allanson's Management of Genetic Syndromes
Herausgegeben:Carey, John C.; Cassidy, Suzanne B.; Battaglia, Agatino; Viskochil, David
Cassidy and Allanson's Management of Genetic Syndromes
Herausgegeben:Carey, John C.; Cassidy, Suzanne B.; Battaglia, Agatino; Viskochil, David
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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.
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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.
Hinweis: Dieser Artikel kann nur an eine deutsche Lieferadresse ausgeliefert werden.
Hinweis: Dieser Artikel kann nur an eine deutsche Lieferadresse ausgeliefert werden.
Produktdetails
- Produktdetails
- Verlag: Wiley & Sons / Wiley-Blackwell
- Artikelnr. des Verlages: 1W119432670
- 4. Aufl.
- Seitenzahl: 1104
- Erscheinungstermin: 27. Januar 2021
- Englisch
- Abmessung: 278mm x 227mm x 48mm
- Gewicht: 2912g
- ISBN-13: 9781119432678
- ISBN-10: 1119432677
- Artikelnr.: 57575632
- Verlag: Wiley & Sons / Wiley-Blackwell
- Artikelnr. des Verlages: 1W119432670
- 4. Aufl.
- Seitenzahl: 1104
- Erscheinungstermin: 27. Januar 2021
- Englisch
- Abmessung: 278mm x 227mm x 48mm
- Gewicht: 2912g
- ISBN-13: 9781119432678
- ISBN-10: 1119432677
- Artikelnr.: 57575632
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 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
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
&
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
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
&
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
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
&
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
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
&