Management of Genetic Syndromes-4판
- 저 자 : Carey
- 역 자 :
- 출판사 : Wiley
- ISBN(13) : 9781119432678
- 발행일 : 2020-09 / 4판 / 페이지
- 상품코드 : 27647
- 적립금: 6,500원
Description:
This fourth edition of the book Cassidy’s and Allanson’s 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.
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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.
1 Aarskog Syndrome
2 Achondroplasia
3 Alagille Syndrome
4 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome
5 Angelman Syndrome
6 Arthrogryposis
7 ATR-X: α-Thalassemia Mental Retardation-X-Linked
8 Bardet-Biedl Syndrome
9 Beckwith-Wiedemann Syndrome and Hemihyperplasia
10 Cardio-Facio-Cutaneous Syndrome
11 CHARGE Syndrome
12 Coffin-Lowry Syndrome
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13 Coffin-Siris Syndrome
14 Cohen Syndrome
15 Cornelia de Lange Syndrome
16 Costello Syndrome
17 Craniosynostosis Syndromes
18 Deletion 1p36 Syndrome
19 Deletion 4p: Wolf-Hirschhorn Syndrome
20 Deletion 5p Syndrome
21 Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/DiGeorge Syndrome)
22 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome
23 Denys-Drash, Frasier, and WAGR Syndromes (WT1-related Disorders)
24 Down Syndrome
25 Ehlers-Danlos Syndromes
26 Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorder
27 Fetal Anticonvulsant Syndrome
28 Fragile X Syndrome and Premutation-Associated Disorders
29 Gorlin Syndrome: Nevoid Basal Cell Carcinoma Syndrome
30 Hereditary Hemorrhagic Telangiectasia
31 Holoprosencephaly
32 Incontinentia Pigmenti
33 Inverted Duplicated Chromosome 15 Syndrome (Isodicentric 15)
34 Kabuki Syndrome
35 47,XXY (Klinefelter Syndrome) and Related X and Y Chromosome Conditions
36 Loeys-Dietz Syndrome
37 Marfan Syndrome
38 Mowat-Wilson Syndrome
39 Myotonic Dystrophy Type 1
40 Neurofibromatosis Type 1
41 Noonan Syndrome
42 Oculo-Auriculo-Vertebral Spectrum
43 Osteogenesis Imperfecta
44 Pallister-Hall Syndrome and Greig Cephalopolysyndactyly Syndrome
45 Pallister-Killian Syndrome
46 Prader-Willi Syndrome
47 Proteus Syndrome
48 PTEN Hamartoma Tumor Syndrome
49 Rett Syndrome
50 Robin Sequence
51 Rubinstein-Taybi Syndrome
52 Silver-Russell Syndrome
53 Smith-Lemli-Opitz Syndrome
54 Smith-Magenis Syndrome
55 Sotos Syndrome
56 Stickler Syndrome
57 Treacher Collins Syndrome and Related Disorders
58 Trisomy 18 and Trisomy 13 Syndromes
59 Tuberous Sclerosis Complex
60 Turner Syndrome
61 Vater/Vacterl Association
62 von Hippel-Lindau Syndrome
63 Williams Syndrome
INDEX