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From2007-09-09
To2007-09-12
Course
Full Fee (Research & Study): ? 800* (including tuition, course material, double room and board for the whole duration of the event, shuttle bus from the airport/train station of Bologna to the course venue and back, but NOT travel expenses).
For any further info you can send an e-mail to courses@eurogene.org (since during summer the staff will be out of office for vacation in different periods, please put in cc also giuseppe.curcio@eurogene.org ; we will answer as soon as possible).
* VAT is excluded (Value Added Tax=20%).

In order to apply for the course the first step is to fill in and send the Pre-registration form to Prof. Schinzel at schinzel@medgen.unizh.ch

Download the Pre-registration form by clicking here


This course received 13 Italian credits for ECM (Educazione Continua in Medicina) and 18 European credits for CME (Continuing Medical Education). Credits are addressed to physicians and biologists.

European School of Genetic Medicine
1st course in Clinical Dysmorphology
9th-12th September, 2007
"G.Levi and V.A.McKusick Euro-Mediterranean Center for Genetics and Medicine" Ronzano, Bologna (ITALY)

Last update: 27th August, 2007
DIRECTORS:
A. Schinzel (Zuerich, Switzerland), M. Seri (Bologna, Italy)
FACULTY:
G. Andria (Naples, ITALY), L. Biesecker (Bethesda, U.S.A.), J. Graham (Los Angeles, U.S.A.), R. Happle (Marburg, GERMANY), G. Neri (Rome, Italy), G. Pilu (Bologna, ITALY), A. Renieri (Siena, ITALY), A. Schinzel (Zuerich, SWITZERLAND), M. Seri (Bologna, ITALY), B. Steiner (Zuerich, Switzerland), M. Tartaglia (Rome, Italy)
Saturday, September 8th - Arrival at the Hermitage of Ronzano
Sunday September 9th
Morning Session
09.00
A. Schinzel
Welcome, introduction, purpose of the course
09.15
A. Schinzel
Classification of congenital developmental defects
10.00
B.Steiner
Determination of dysmorphic features: The use of measurements
10.30
Coffee Break
11:00
A. Schinzel
What dysmorphic features can tell us about early developmental pathology
12:00
J.Graham
Differential diagnosis of cerebral overgrowth syndromes
13.00
Lunch break
Afternoon Session
14.30
J. Graham
Dysmorphic features of skull and face
15.15
J. Graham
Dysmorphic features of trunk and limbs<
16.00
Coffee break
16.30
B. Steiner
The use of databases for the diagnosis of pattern of congenital developmental defects
17.15
A. Schinzel
Twinning and congenital developmental defects
Monday September 10th
Morning Session
09.00
L. Biesecker
The development and uses of a new standardized terminology for the evaluation of dysmorphic patients
09.45
A.Schinzel
Uniparental disomy in humans
10.40
Coffee Break
11:00
A. Schinzel
Dysmorphic patterns and malformations characteristic for chromosome aberrations
12:00
R. Happle
Cutaneous mosaicism: concepts and consequences
12:30
A. Schinzel
Karyotype-phenotype correlations in chromosome aberrations
13.00
Lunch break
Afternoon Session
14.30
J. Graham
Deformations and deformation patterns
15.15
J. Graham
Disruptions and disruptive patterns
16.00
Coffee break
16.30
All lecturers
Practical exercises with cases brought by the students, in small groups
17.15
A. Schinzel
Twinning and congenital developmental defects
Tuesday September 11th
Morning Session
09.00
G. Andria
Metabolic dysmorphology
09.45
R. Happle
Neurocutaneous syndromes
10.30
Coffee Break
11:00
L. Biesecker
The evaluation of patients with segmental overgrowth disorders
11.45
G. Pilu
Prenatal ultrasonographic diagnosis of congenital developmental defects
12.30
R. Happle
Cutaneous markers for the recognition of patterns of congenital developmental defects
13.00
Lunch break
Afternoon Session
Excursion
Wednesday September 12th
Morning Session
09.00
M. Seri
Genetic heterogeneity
09.30
L. Biesecker
An approach to the patient with polydactyly, syndromic and non-syndromic
10.00
A. Renieri
Rett syndrome and related disorders
10.30
Coffee Break
11:00
G. Neri
Noonan, CFC and Costello syndromes: similarities and differences in the clinical pictures
11.30
M. Tartaglia
Molecular basis of Noonan, CFC and Costello Syndromes: the RAS pathway
12.00
Examination and Questionnaire
13.00
Lunch break
Departure in the early afternoon
Venue
Directors
Speakers
Programme
"G.Levi and V.A.McKusick Euro-Mediterranean Center for Genetics and Medicine" Ronzano, Bologna (ITALY)
9th-12th September, 2007
DIRECTORS:
A. Schinzel (Zuerich, Switzerland), M. Seri (Bologna, Italy)
 
FACULTY:

G. Andria (Naples, ITALY), L. Biesecker (Bethesda, U.S.A.), J. Graham (Los Angeles, U.S.A.), R. Happle (Marburg, GERMANY), G. Neri (Rome, Italy), G. Pilu (Bologna, ITALY), A. Renieri (Siena, ITALY), A. Schinzel (Zuerich, SWITZERLAND), M. Seri (Bologna, ITALY), B. Steiner (Zuerich, Switzerland), M. Tartaglia (Rome, Italy)

European School of Genetic Medicine