Genetic Syndromes : A Comprehensive Reference Guide / edited by Nima Rezaei.

Format:

Book

Contributor:

Rezaei, Nima, editor.

SpringerLink (Online service)

Series:

Medicine (Springer-11650)

Language:

English

Subjects (All):

Pediatrics.

Human genetics.

Internal medicine.

Human Genetics.

Internal Medicine.

Local Subjects:

Pediatrics.

Human Genetics.

Internal Medicine.

Physical Description:

1 online resource (XXX, 8970 pages)

Contained In:

Springer Nature Living Reference

Place of Publication:

Cham : Springer International Publishing : Imprint: Springer, 2020.

System Details:

text file PDF

Summary:

This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .

Contents:

General Overview of Congenital Syndromes: Pathophysiology and Etiology

Immunologic Syndromes

Hematologic Syndromes

Neurologic and Mental Syndromes

Craniofacial Syndromes

Congenital Musculoskeletal Syndromes

Congenital Ophthalmic Syndromes

Cuteneous Syndromes

Endocrine and Metabolic Syndromes

Cardiovascular Syndromes

Gastrointestinal Syndromes

Pulmonary and Respiratory Syndromes

Renal Syndromes

Urogenital Syndomes

Other Non-Specific Congenital Syndromes.

ISBN:

978-3-319-66816-1

9783319668161

Access Restriction:

Restricted for use by site license.