The tools are in the format of Pdf Documents which allow the user to follow the pages sequentially or navigate using links on the contents page to specific sections of interest. Each tool also has several links to reference information along with downloadable proformas for practical use in the clinical setting.
The first title ‘How to examine a fetus with congenital abnormality’ has been completed and is now available.
A poster on this educational tool was presented at ESHG 2009 and the full contents list is available to view here
The aim is to provide guidance on how to examine a fetus with congenital abnormality and/ or dysmorphic features and how to interpret the findings. It is aimed at clinical geneticists, paediatricians, obstetricians, pathologist and radiologists.
If you wish to have access to this educational tool, please register by contacting the Project Support Officer with the following information:
Name
Title
Email address
Current position
Institution name & address (including country)
Speciality (e.g. clinical genetics/ cardiology etc)
Please note:
Registration is free.
You do not have to be a DYSCERNE Network member to register.
We will treat all personal information as confidential and will not pass your details onto any third parties.
We may contact you in the future with updates on the DYSCERNE project. Please see the DYSCERNE data protection statement for more details.
Other titles currently being developed include ‘Examination of a dysmorphic infant’.
If you have already registered with DYSCERNE to access the Educational Tool you can log on here
Winter-Baraitser Dysmorphology Database
With the kind permission of Michael Baraitser, the list of features and definitions from the Winter-Baraitser Database (formerly the London Medical Database, www.lmdatabases.com) is available here.
With the kind permission of Michael Baraitser, the list of features and definitions from the Winter-Baraitser Database (formerly the London Medical Database, www.lmdatabases.com) is available here.
Orphanet Thesaurus
To access the Orphanet thesaurus of Clinical signs and symptoms please click here