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SEVENTH EUROPEAN COURSE
IN CLINICAL DYSMORPHOLOGY
”WHAT I KNOW BEST”
SEVENTH EUROPEAN COURSE
IN CLINICAL DYSMORPHOLOGY
«”WHAT I KNOW BEST”»
Rome,November 6-7,2017
Catholic University School of MedicinePoliclinico “A.Gemelli”
Aula Brasca, floor 4°
PROVIDER ID 2463Servizio Manifestazioni,
Corsi di Formazione,ECM e Congressi
Tel. 06.3015.4886 – [email protected]
Istituto di Medicina GenomicaDirettore: Prof. Maurizio Genuardi
Directors: Fiorella Gurrieri, Raoul Hennekam, Giovanni Neri
Organizing secretariat:Luciana Amato
Tel. [email protected]
Numero identificativo dell’evento N. Crediti ECM assegnati n. Professioni accreditate: MEDICO CHIRURGO (Dermatologia, Genetica, Neurologia,Neuropsichiatria Infantile, Pediatria,Ortopedia, Odontoiatria)E BIOLOGO
Numero identific
November 6th
8:00 Registration Opens
Chair: Giovanni Neri (Rome)
9:15 Welcoming address and presentation of the CourseFiorella Gurrieri (Rome), Raoul Hennekam (Amsterdam)
9:30 Skin mosaicisms in HumansRudolf Happle (Marburg)
10:15 Coffee break
Chair: Pablo Lapunzina (Madrid)
10:45 Syndromes with HydrocephalusFiorella Gurrieri (Rome)
11:30 Brain Malformation syndromes with abnormal development ofthe cerebral cortexRenzo Guerrini (Florence)
12:15 Syndromes with HoloprosencephalyMax Muenke (Bethesda)
13:00 Lunch
Chair: Max Muenke (Bethesda)
14:30 Cornelia de Lange syndromes: Diagnostic criteria/guidelinesRaoul Hennekam (Amsterdam)
15:15 The molecular bases of CdLSMatt Deardorff (Philadelphia)
16:00 Behavioral profile in CdLSChris Oliver (Birmingham)
16:45 Crisponi SyndromeLaura Crisponi (Cagliari)
November 7th
Chair: Maurizio Genuardi (Rome)8:45 Pathogenesis of chromosome imbalances
Peter Robinson (Farmington)9:30 3p25 deletion syndrome
Christiane Zweier (Erlangen)10:15 9q34 deletion syndrome
Tijtske Kleefstra (Nijmegen)11:00 Coffee break
Chair: Maurizio Genuardi (Rome)
11:30 Obesity syndromesMieke van Haelst (Amsterdam)
12:15 Tall stature syndromesPablo Lapunzina (Madrid)
13:00 Lunch
Chair: Tjitske Kleefstra (Nijmegen)
14:30 Fraser syndromeAnn Slavotinek (San Francisco)
15:15 Syndromes with coloboma, microphthalamia and anophthalmiaDavid FitzPatrick (Edinburgh)
16:00 Aaskorg syndromeAlfredo Orrico (Siena)
16:45 Closing remarksRaoul Hennekam (Amsterdam)
17:15 Collection of the evaluation sheetsEnd of the Course
- PROGRAM -
