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PROGRAM |
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10.45
Communications (R. Tenconi, Padova)
11.15
Seminars on connective tissue syndromes with cardiovascular anomalies:
- Marfan and Marfan-like syndromes (E. Arbustini, Milano)
- Arterial tortuosity syndrome. Clinical aspects, gene identification
and possible function (M. Colombi,
Brescia)
12.45
Professional experiences in other countries: Groningen and Amsterdam (A. Wischmejier,
Bologna)
download ppt file
Projects in progress:
- Physical examination when skeletal dysplasia is suspected (G. Canepa, Merate,
LC - M.F.
Bedeschi, Milano)
download ppt file
- Clinical morphology glossary: new definitions (A. Baroncini, Imola)
13.30
Lunch break
14.00
Follow-up of previously presented cases:
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Presented by |
Diagnostic suspicion |
Discussant |
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F. Mari (A. Renieri, Siena) |
Microduplication 17p11.2
presented on December
15th, 2003 |
M. Della Monica |
| F. Mari (A. Renieri, Siena) |
Cohen presented on September 27th,
2004 |
M. F. Bedeschi |
| I. Mammi (Dolo, Padova) |
Kaufman-McKusick s.? presented on 1998-99 |
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M. Della Monica (G. Scarano, Benevento) |
Microdeletion 16q24.2 presented on October
10th, 2005 |
A. Baroncini |
14.30
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Presentation and discussion of new cases: |
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Presented by |
Diagnostic suspicion |
Discussant |
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| M. L. Giovannucci Uzielli (Firenze) |
Nevo s.? |
G. B. Ferrero |
| T. A. Wischmeijer (M. Seri, Bologna) |
Angelman s.? |
D. Greco |
| A. G. Del Monaco (M. Silengo, Torino) |
Mulvihill-Smith s.? |
C. Danesino |
| M. A. Mencarelli (A. Renieri, Siena) |
Ohdo-Blepharophimosis s.? |
A. Selicorni |
| L. Mazzanti (Bologna) |
Okihiro s.? |
L. Salviati |
| M. Bordignon (R. Tenconi, Padova) |
Noonan s.? |
M. Silengo |
| S. Marelli (R. Borgatti, Bosisio Parini) |
Mowat-Wilson s.? |
L. Garavelli |
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17.00
Closing session |
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