Dysmorphology Workshops

The first ESHG Dysmorphology workshop run in Genoa, in 1997, by Dian Donnai and Robin Winter, with about 50 attendees and an ‘expert panel’ that was asked to sit on the front row. Gradually, the number of attendees increased, as well as the number of cases presented and there have been two workshops at each conference for many years with attendance reaching 450 per session, run by Dian Donnai and Jill Clayton-Smith.

We invite presenters, participants and the wider ESHG community to the two Dysmorphology Workshops to be held during the hybrid 2024 ESHG conference in Berlin.

For the first time

1. We ask participants to submit their cases in advance of the meeting, via an ad hoc, online submission system until April 16, 2024 at 23:59 CEST.
2. Participants can also present online/remotely during the workshops

To be shortlisted for presentation, please submit an abstract of consented, distinctive unsolved or instructive solved cases.

All submissions will be reviewed by expert dysmorphologists and shortlisted for presentation by the chairs Sofia Douzgou Houge, Arjan Bouman and Peter Krawitz. We will prioritise cases

1. of very distinctive and/or extremely rare dysmorphic patterns
2. from Low or Middle Income Countries
3. of significant academic and/or educational value
4. with prior GestaltMatcher analysis

The submitters will be notified by the beginning of May 2024 through the email address provided during submission whether their case has been accepted for presentation. Those that have been selected for presentation during the Dysmorphology workshop at ESHG 2024 will receive a Power Point template with the structure they need to follow to prepare their presentation.

We are delighted to announce that the best case presentation from a trainee in medical/clinical genetics will be awarded the ‘Dian Donnai and Jill Clayton-Smith’ prize of a EUR 600, a diploma, a free participation at the next conference and a free membership for one year during the ESHG Awards session.

We look forward to seeing you in Berlin!

Please read the instructions carefully.

Case Format for submission

• The text must not exceed 250 words.
• Do not include the title and authors in the case text.
• Graphics are NOT allowed.
• You must follow the following structure in your submission:

Known / unknown

Patient
Sex, age

Clinical summary
Relevant medical history
Prenatal  / antenatal
Development
Growth
Behavioral concerns
Morbidities
Malformations
Other relevant details

Family history                  

Physical exam
Growth parameters
Dysmorphic features

Investigations
Genetic investigations (include details and use HUGO standards regarding genetic variants)
Metabolic screen
Radiology
Other relevant laboratory investigations

When entering the submission portal…

You need an account to be able to submit your Case. On the home page of the portal you will be asked to:

• create a new user account by clicking on “Create new account”. Fill in all required fields and save your personal information by clicking “Create New Account” in the online form.

How to start the Case submission…

Once you are logged into the portal, you will see the Case submission button labelled “Submit Case”. Click on the button to start your submission. The Portal will guide you step by step through the submission process and information that is required to be entered.

At the end of the process, you will see a summary of your submission (“Review“), in which you may save an overview of your submission by clicking on “Save as Draft” button. Once you are satisfied with your submitted data you must click on the “submit” button on this last step to complete your submission. After clicking on the “submit” button, you will receive a submission confirmation email.

Please note that you cannot edit your Case once it is submitted. You can only edit the Case submission as long as it is in ‘Draft’ mode. Therefore please only submit your case once it is considered ‘final’. Changes or edits can only be sent by e-mail until the submission deadline (April 10, 2024) to conference@eshg.org

Your draft can be viewed and edited under “View/Edit Case”.

If you have any questions or encounter technical issues, please contact the conference organizer at conference@eshg.org.

General Information on Case Submission

With submitting your case via the online submission system you agree to the following:

• you have obtained appropriate consent for the case submission to ESHG 2024
• if your case will be selected for presentation, this will be live streamed via the virtual conference platform which is accessible to all registered participants

TECHNICAL REQUIREMENTS

Cases can only be submitted online via the official online submission form.

Cases sent by email or mail will not be accepted. No exceptions will be made.

The online case submission system works best with Internet Explorer: 8.0 or higher, Firefox: 5.0 or higher, Chrome: 7 or higher, Apple Safari 5.1 or higher.

AFTER THE SUBMISSION

The reviewers will judge the cases according to scientific, translational and clinical value.

The submitters will be notified by the beginning of May 2024 through the email address provided during submission whether their case has been accepted for presentation. Those that have been selected for presentation during the Dysmorphology workshop at ESHG 2024 will receive a Power Point template with the structure they need to follow to prepare their presentation.

If you need to withdraw your case, a written statement, reflecting the reasons of this decision must be sent to conference@eshg.org.

All case presenters must be registered and pay the appropriate registration fee.

Support

For support during the submission process, please send an email to conference@eshg.org or call +43 1 405 13 83 14 between 9.00 – 17.00 hrs CEST.