Product Description
This important new book provides a useful, easy-to-use guide to the clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out-patient and ward-based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are covered. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.
Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well-illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. This accessible book is designed for use by consultants and trainees in clinical genetics, genetic counsellors and paediatricians, particularly those working in paediatric neurology, neonatology or child development.

CUSTOMER REVIEWS (Average Customer Rating: 4.5 based on 4 reviews)

A perfect tool for the daily genetic consult

This is a perfect book for reference, gives you an idea about what to look for in your patient and the approach section is very useful tool in the daily consult
March 30, 2008

Extensive guide to clinical geneticist

This reference book has provided useful notes for a list of diseases and conditions one may need to look up from time to time. Geneticists would benefit the most, especially in my opinion, ones that have not specifically worked in the clinical field. As mediterrenean folks, we were surprised to find out FMF was left out. Some other common dysmorphic features were not as comprehensive as others. Nevertheless, I think this book is a must in a hospital genetician's library; hence the title "desk reference".
October 17, 2007

Quick Reference to a Wealth of Information

As a desk reference this book is not intended to be a replacement for a textbook on the subject, but to provide a well indexed quick guide to problems likely to confront the clinical worker.

In addition, the clinical worker is likely to find this to be a useful book to share with patients seeding additional information about particular conditions. The ability to show such patients (or their parents) brief descriptions of conditions being discussed is often a help. This is especially true in those cases where diagrams are included that can be shown to illustrate the condition being discussed.

This is the first edition of this book. It is remarkable in that so much information is included. It is such a useful concept that I expect there will be future editions over time and that it will become one of the standards kept on everyone's desk.
March 03, 2006

Absoluteley essential guide for clinical genetics

This is an all encompassing guide to clinical genetics. Straight forward for the lay person to understand but essential to all professionals in the field
December 05, 2005

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The Bedside Dysmorphologist
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