NDLI: Dysmorphology at a distance: results of a web-based diagnostic service

Content Provider	PubMed Central
Author	Douzgou, S. Clayton-smith, J. Gardner, S. Day, R. Griffiths, P. Strong, K. Amiel, J. Baraitser, M. Brueton, L. Brunner, H. Chrzanowska, K. Dallapiccola, B. Del, Campo Casanelles M. Devriendt, K. Donnai, D. Fitzpatrick, D. Gillessen-kaesbach, G. Houge, G. Kerr, B. Krajewska-walasek, M. Lacombe, D. Meinecke, P. Metcalfe, K. Mortier, G. Odent, S. Philip, N. Prescott, T. Raas-rothschild, A. Rauch, A. Rittinger, O. Salonen, R. Schrander-stumpel, C. Suri, M. Temple, K. Tolmie, J. Verloes, A. Wieczorek, D. Zenker, M. Van Der Burgt, I.
Copyright Year	2014
Abstract	In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.
Related Links	http://dx.doi.org/10.1038/ejhg.2013.137
Ending Page	332
Page Count	6
Starting Page	327
File Format	PDF
ISSN	10184813
e-ISSN	14765438
Journal	European Journal of Human Genetics
Issue Number	3
Volume Number	22
Language	English
Publisher	Nature Publishing Group
Publisher Date	2014-03-01
Access Restriction	Open
Rights Holder	Nature Publishing Group
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Dysmorphology at a distance: results of a web-based diagnostic service

Diagnostic dysmorphology

Isolation by distance, web service

Parallelization and optimization of genetic analyses in isolation by distance web service

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

Dysmorphology

London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM.

Use of computers in dysmorphology.

London Dysmorphology Database

Dysmorphology at a distance: results of a web-based diagnostic service

Similar Documents

Dysmorphology at a distance: results of a web-based diagnostic service

Diagnostic dysmorphology

Isolation by distance, web service

Parallelization and optimization of genetic analyses in isolation by distance web service

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

Dysmorphology

London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM.

Use of computers in dysmorphology.

London Dysmorphology Database

Dysmorphology at a distance: results of a web-based diagnostic service