Management of Genetic Syndromes (ePub)

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