MEETINGS ON CLINICAL GENETICS SIGU

PROGRAM

10.45 Welcome of Prof. B. Dallapiccola and sundry comments (R. Tenconi, Padova) 11.00 Seminars: - Joubert syndrome and correlated syndromes: Genotype-phenotype correlations (E. M. Valente, Roma) download pdf file - Q10 coenzyme deficit: An example of curable genetic disease (L. Salviati, Padova) download ppt file 12.15 Projects in progress: - Glossary of dysmorphologic signs (A. Baroncini, Imola) - approval of the "temporary" signs inserted in this site (hypo- and hypertelorism) and of telecanthus and dystopia canthorum (presented by S. Bigoni on june 5th) - presentation of cryptophthalmos and blepharophimosis (M.F. Bedeschi) *13.00* Lunch break 13.30 *Discussion about the document on the Clinical Genetics activity: Diagnostic approach methodology to the clinical case* - approval of the document "Analysis of the phenotype" by C. Romano (which will be sent by mail to all t the beginning of September) - presentation of the document on the consent for clinical photographs (M. Priolo, Reggio Calabria - R. Tenconi, Padova) - presentation of the document on the genetic tests (molecular) in the practice (A. Renieri, Siena) 14.45 Clinical cases presentation and discussion:
Speaker	Case	Cospeaker

Garavelli L. (Reggio Emilia)	Mitochondrial d.?	Pantaleoni C.
Bordignon M. (Tenconi R., Padova)	Silver-Russel s.?	Priolo M.
Magnani C. (Parma)	Lowry-Wood s.?	Dallapiccola B.
D'Arrigo S.(Pantaleoni C., Milano)	Cohen s.?	Romano C.
Castori M. (Dallapiccola B., Roma)	Cooks s.?	Scarano G.
Palka C. (Dallapiccola B., Roma)	Geroderma Osteodysplasticum?	Della Monica M.
D'Amato G. (Dallapiccola B., Roma)	Varadi-Papp s.?	Priolo M.
*17.00* Closing session

Discussion about the document on the Clinical Genetics activity: Diagnostic approach methodology to the clinical case