Scdl

CONFERENCE REPORT

Cornelia de Lange Syndrome: Extending the Physical and Psychological Phenotype
Chris Oliver,1* Maria Francesca Bedeschi,2 Natalie Blagowidow,3 Cheri S. Carrico,4 Anna Cereda,5 David R. FitzPatrick,6 Cristina Gervasini,7 Gemma M. Griffith,8 Antonie D. Kline,3 P. Marchisio,2 Joanna Moss,1,9 Feliciano J. Ramos,10 Angelo Selicorni,11 Penny Tunnicliffe,1 Jolanta Wierzba,11 andRaoul C.M. Hennekam12
1 2 3 4 5 6 7 8 9

School of Psychology, University of Birmingham, Birmingham, UK Department of Maternal and Pediatric Sciences, Milan, Italy Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, Maryland Speech-Language-Hearing Clinic, Elmhurst College, Elmhurst, Illinois Department of Pediatrics, Fondazione Ospedale Maggiore Policlinico,Mangiagalli e Regina Elena, Milan, Italy MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK Medical Genetics, San Paolo School of Medicine, Milan, Italy

School of Psychology, Bangor University, Bangor, UK Institute of Psychiatry, Kings College, London, UK 10 Laboratorio de Gentica Cl e ınica y Genmica Funcional, Facultad de Medicina, Zaragoza, Spain o
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Department of GeneralNursery and Department of Pediatrics, Hematology, Oncology and Endocrinology, Medical University, Gdansk, Poland Department of Pediatrics, Academic Medical Centre, UVA, The Netherlands

Received 11 January 2010; Accepted 24 January 2010

Key words: Cornelia de Lange syndrome; behavioral phenotype How to Cite this Article:
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, FitzPatrick DR,Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RCM. 2010. Cornelia de Lange syndrome: Extending the physical and psychological phenotype. Am J Med Genet Part A 152A:1127–1135.

INTRODUCTION
The third Cornelia de Lange Syndrome World Scientific Conference was held in July 2009 in Brighton, United Kingdom. The Scientific Conferencepreceded a conference for professionals from health, education and other backgrounds who work with children and adults with Cornelia de Lange syndrome (CdLS) and a 2-day family conference. Delegates and families from over 20 countries attended the conferences. The goal of the conference was to provide a forum for the exchange of research results, information on best clinical practice, andperspectives on support relevant to the wellbeing of children and adults with CdLS. The purpose of this proceeding is to provide a summary of the scientific conference to those researchers and clinicians who were unable to attend.

SUMMARY OF PRESENTATIONS
The scientific conference included presentations on molecular genetics, genotype–phenotype correlations, sensory abnormalities, physical health,aging, the social and behavioral phenotype of CdLS, and family perspectives on care and management for persons with CdLS. The diversity of research presentations is indicative of the

Grant sponsor: Ministerio de Sanidad y Pol ıtica Social of Spain (Ref. PI061343); Grant sponsor: Gobierno de Aragn (Ref. B20). o Proceedings from the 3rd Cornelia de Lange World Conference 2009. *Correspondence to:Chris Oliver, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham B15 2TT, UK. E-mail: c.oliver@bham.ac.uk Published online 13 April 2010 in Wiley InterScience (www.interscience.wiley.com) DOI 10.1002/ajmg.a.33363

Ó 2010 Wiley-Liss, Inc.

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1128 breadth of activity and perspectives in a growing research agenda. CdLS is a complexdevelopmental disorder with the cause identified in approximately 55–60% of those clinically diagnosed as arising from mutations of the NIPBL, SMC1A, and SMC3 genes [Krantz et al., 2004; Tonkin et al., 2004; Bhuiyan et al., 2006; Musio et al., 2006; Deardorff et al., 2007; Kline et al., 2007a]. There is evidence that NIBL mutations are associated with a more severe phenotype (Abstract 2) but there...