European School of Genetic Medicine
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| From | 2007-09-09 |
| To | 2007-09-12 |
| 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 |
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| 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) |