The Conference's Scientific Committee comprises Alex Levin - University of Toronto, Nicola Principi - De Marchi Paediatrics Clinic - Milan University, Daria Riva and Fabio Sereni - Milan Besta Neurological Institute. While Sergio Luzzani, formerly at the ICP of Milan, Angelo Selicorni Italian Association scientific coordinator and Paola Marchisio, the latter both from the De Marchi Paediatrics Clinic, are all working in the scientific secretariat.
The Cornelia de Lange syndrome (CDLS) is a multi-malformation pathology described for the first time by a Dutch paediatrician, Dott Cornelia de Lange, in 1933. The syndrome is a rare condition - the most recent estimates by English authors (M. Ireland) refer to percentages of newborn equal to 1/15,000-1/20,000, but also of a significant increase after the '80s - characterised by specific features, retarded growth, hirsutism, small hands and feet or, less frequently, severely stunted other limbs. Moreover, patients suffering from the syndrome can manifest severe malformations of various organs and tracts (palate, heart, kidney, etc.) with a variable frequency; furthermore, a specific increased incidence of well-defined medical complications is known (gastro-intestinal reflux, hypoacousis and recurrent otitis).
Also the psychomotor and intellectual development is generally retarded and the majority of persons suffering from the syndrome have a medium-severe degree of retarded development. Verbal communication skills are particularly at risk and require specific approach strategies in terms of rehabilitation. Furthermore, an incidence of behavioural problems is reported which range from
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Contact: Carla Imarisio
imarisio@fondazione-mariani.org
39-279-5458
Fondazione Mariani Onlus
27-Apr-2005