MEETINGS ON CLINICAL GENETICS
SIGU
(Italian Society of Human Genetics)


 

Monday 25.06.2007 (2/07)

Aula Sforza, Ospedale Policlinico
Via Commenda, 16 - Milano

Coordinator: Prof. Romano Tenconi - University of Padova

 

PROGRAM

10.45

Communications

11.00

Seminars on neuro-cardio-facio-cutaneous syndromes:

- Deregulation of the Ras pathway and Noonan syndrome (M. Tartaglia, Roma)

- Noonan syndrome and related disorders: genotype-phenotype correlations (Bruno Dallapiccola, Roma)

12.30

Guideline proposal:

- Networking and rare diseases: some preliminary suggestions from the skeletal dysplasia experience (A. Superti-Furga, Freiburg, Germany)

- Italian Skeletal Dysplasia Network (L. Sangiorgi, Bologna, F. Lalatta, Milano) download ppt file

- The diagnostic work-up for fetal malformations (F. Lalatta M
ilano) download ppt file

13:30

Light lunch

14.30
Presentation and discussion of new cases:
 

Presented by

Diagnostic suspicion

Discussant

     
L. Garavelli (Reggio Emilia) Smith-Magenis s.? C. Romano
L. Boccone (Cagliari) Myhre growth-mental deficiency s. ? M. Priolo
V. Uliana (A. Renieri, Siena) Kabuki s.? R. Tenconi
M. Priolo (Reggio Calabria) Noonan s.? D. Milani
M. Bellini (A. Selicorni, L. Larizza, Milano) Wiedemann-Steiner s.? L. Garavelli
M. F. Bedeschi (F. Lalatta, Milano) Cohen s.? A. Selicorni
     
17.00

Closing session