Monday 16.03.2009 (1/09)

Bologna
Policlinico Sant’Orsola-Malpighi
Polo didattico A. Murri (ingresso al Policlinico da Viale Ercolani)

Coordinator: Prof. Romano Tenconi - University of Padova

 PROGRAM

10.45

 - Opening address (R. Tenconi)


11.00

Seminars

- Gene expression in Down syndrome (P. Prandini, Verona) ppt file

- A not well known syndrome: Down syndrome (G. Neri, Roma)


12.30

Educational

- Gestaltic test of malformation syndromes (M. Priolo, Reggio Calabria)

- Italian medical genetics specialists database (A. Renieri, Siena) ppt file


13.00
Lunch


13.30

Projects: old & new

- Duty to recontact. When and how to do it? (S. Belli, Trento & subproject group) ppt file
 

14.15

Dysmorphology pitfalls in adult patients

- A well known syndrome with a prevalence of 1:25,000 not easy to diagnose in adults (D. Greco, Troina)

Dyscerne

- Case presentation (M.L. Dentici, Roma)



Follow-up of previously presented cases:

 

Presented by	Diagnostic suspicion	Discussant
L. Garavelli (Reggio Emilia)	Mandibuloacral dysplasia? presented on December 1st, 2008	C. Romano

Presentation and discussion of new cases:
 

Presented by	Diagnostic suspicion	Discussant
M.L. Dentici (B. Dallapiccola, Roma)	Cohen s.?
M. L. Giovannucci-Uzielli (Firenze)	Ehlers-Danlos type VI ?	M. Della Monica
M. Pollazzon (A. Renieri, Siena)	Cohen s.?
G. Marangi (M. Zollino, Roma)	Psychomotor retardation and minor craniofacial anomalies	C. Romano
S. Marelli (R. Borgatti, Bosisio Parini)	Ohdo s.?	M. Priolo
C. Marzocchi (R. Tenconi, Padova)	Proteus s.? Encephalocraniocutaneous lipomatosis?	C. Romano

17.00

Closing session