A review in the American Journal of Medical Genetics
heralded the first edition of Management of Genetic
Syndromes as an "unparalleled collection of knowledge." Since
publication of the first edition, improvements in the molecular
diagnostic testing of genetic conditions have greatly facilitated
the identification of affected individuals. This thorough revision
of the critically acclaimed bestseller offers original insights
into the medical management of sixty common genetic syndromes seen
in children and adults, and incorporates new research findings and
the latest advances in diagnosis and treatment of these
disorders.

Expanded to cover five new syndromes, this comprehensive new
edition also features updates of chapters from the previous
editions. Each chapter is written by an expert with extensive
direct professional experience with that disorder and incorporates
thoroughly updated material on new genetic findings, consensus
diagnostic criteria, and management strategies. Edited by two of
the field's most highly esteemed experts, this landmark volume
provides:

A precise reference of the physical manifestations of common
genetic syndromes, clearly written for professionals and
families
Extensive updates, particularly in sections on diagnostic
criteria and diagnostic testing, pathogenesis, and management
A tried-and-tested, user-friendly format, with each chapter
including information on incidence, etiology and pathogenesis,
diagnostic criteria and testing, and differential diagnosis
Up-to-date and well-written summaries of the manifestations
followed by comprehensive management guidelines, with specific
advice on evaluation and treatment for each system affected,
including references to original studies and reviews
A list of family support organizations and resources for
professionals and families

Management of Genetic Syndromes, Third Edition is a
premier source to guide family physicians, pediatricians,
internists, medical geneticists, and genetic counselors in the
clinical evaluation and treatment of syndromes. It is also the
reference of choice for ancillary health professionals, educators,
and families of affected individuals looking to understand
appropriate guidelines for the management of these disorders.

From a review of the first edition:

"An unparalleled collection of knowledge . . . unique, offering
a gold mine of information." --American Journal of Medical
Genetics

Autorentext

Suzanne Cassidy, MD, is Clinical Professor of Pediatrics at
University of California, San Francisco and at University of
California, Irvine. She is a board-certified Medical Geneticist and
Pediatrician who has focused on care of individuals with genetic
syndromes throughout her 30-year academic and clinical career. She
is devoted to educating medical geneticists, having served on the
American Board of Medical Genetics and the founding Residency
Review Committee for Medical Genetics, as well as directed genetics
training programs in 4 institutions. She served on the board of
directors of the American Society of Human Genetics and as a member
of the Board of Scientific Counselors of National Center for Human
Genome Research at NIH. She has been identified as one of
'America's Top Doctors'.

Judith E. Allanson, MD, is Chief of the Department of
Genetics, and Professor of Pediatrics at the University of
Ottawa. She is a board-certified Medical Geneticist and
Internist with longstanding interests in pattern recognition,
syndrome identification and management.

Zusammenfassung
The bestselling guide to the medical management of common genetic syndromes now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders.

Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides:

A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families
Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management
A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis
Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews
A list of family support organizations and resources for professionals and families

Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders.

From a review of the first edition:

"An unparalleled collection of knowledge . . . unique, offering a gold mine of information." American Journal of Medical Genetics

Inhalt
Foreword to the Third Edition. Foreword to the Second Edition.

Foreword to the First Edition.

Preface.

Contributors.

1 Introduction (Suzanne B. Cassidy and Judith E. Allanson).

2 Aarskog Syndrome (Roger E. Stevenson).

3 Achrondroplasia (Richard M. Pauli).

4 Alagille Syndrome (Binita M. Kamath and Ian D. Krantz).

5 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome (Richard A. King and C. Gail Summers).

6 Angelman Syndrome (Charles A. Williams and Aditi Dagli).