Concurrent Sessions

Sunday, May 7, 2006, 15.00 - 16.30 hrs - Forum

C02. Clinical genetics I

C10. Acrolaryngeal dysplasia: a distinct autosomal dominant acromelic syndrome.
D. L. Rimoin¹, D. Krakow¹, W. Wilcox¹, L. Ghizzoni², S. Braddock³, S. Unger⁴, A. Superti-Furga⁴, G. Mortier⁵, J. Hall⁶, Y. Alaney¹, R. Lachman¹;
¹Cedars-Sinai Medical Center, Los Angeles, CA, United States, ²University of Parma, Parma, Italy, ³University of Missouri, Columbia, MO, United States, ⁴University of Freiburg, Freiburg, Germany, ⁵University of Ghent, Gent, Belgium, ⁶University of British Columbiua, Vancouver, BC, Canada.

C11. Achalasia, megacolon, skeletal deformities associated with generalized angiodysplasia and severe growth retardation, low copper, ceruloplasmin and zinc levels in two distinct consanguineous families. A new autosomal recessive condition.
S. Balci^1,2, F. Atalay³;
¹Hacettepe University, Clinical Genetics (emeritus), Ankara, Turkey, ²Kibris Sokak 17/8, Kavaklidare, Ankara, Turkey, ³Turkish Advanced Specialized Hospital, Ankara, Turkey.

C12. Holoprosencephaly: clinical and genetic study about 340 patients (1996-2006)
L. Pasquier¹, C. Bendavid^2,3, C. Dubourg^2,3, S. Jaillard⁴, I. Gicquel², C. Henry⁴, V. David^2,3, S. Odent¹;
¹Unité de Génétique Clinique, CHU Rennes, France, ²UMR 6061 - CNRS, Rennes, France, ³Laboratoire de Génétique Moléculaire, CHU Rennes, France, ⁴Laboratoire de Cytogénétique, CHU Rennes, France.

C13. FBN1 mutations in patients with incomplete Ghent criteria in a series of 1057 probands: Further delineation of type I fibrillinopathies
G. Collod-Beroud¹, A. Child², B. Callewaert³, C. Binquet⁴, E. Gautier⁴, E. Arbustini⁵, K. Mayer⁶, A. Kiotsekoglou², C. Bonithon-Kopp⁴, C. Beroud¹, M. Claustres¹, P. Comeglio², C. Muti⁷, H. Plauchu⁸, P. Robinson⁹, L. Ades¹⁰, J. De Backer³, P. Coucke³, U. Francke¹¹, A. De Paepe³, C. Boileau¹², G. Jondeau⁷, L. Faivre¹³;
¹Laboratoire de Genetique Moléculaire, IURC, Montpellier, France, ²Departement of Cardiological Sciences, London, United Kingdom, ³Medical Genetics, Ghent, Belgium, ⁴Centre d'Investigation Clinique - Epidemiologie Clinique, Dijon, France, ⁵Molecular diagnostic Unit, Pavia, Italy, ⁶Molecular Genetics, Martinsried, Germany, ⁷Consultation Pluridisciplinaire Marfan, Hopital Ambroise Paré, Boulogne, France, ⁸Service de Genetique, Lyon, France, ⁹Institut für Medizinische Genetik, Berlin, Germany, ¹⁰Department of Pediatrics, Sydney, Australia, ¹¹Department of Genetics and Pediatrics, Stanford, CA, United States, ¹²Laboratoire de Genetique Moléculaire, Hopital Ambroise Pare, Boulogne, France, ¹³Departement de Genetique, Dijon, France.

C14. Non congenital paediatric Myotonic Dystrophy: clinical and genetic study in a series of 44 patients
D. Héron¹, A. Jacquette¹, S. Whalen¹, A. Mallet¹, H. Radvanyi², N. Angeard³, B. Eymard³;
¹Département de Génétique, PARIS, France, ²Service de Biochimie Génétique, Boulogne, France, ³Institut de myologie, PARIS, France.

C15. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
S. Twigg¹, K. Matsumoto^1,2, A. Kidd³, A. Goriely¹, I. Taylor¹, R. Fisher⁴, J. Hoogeboom⁵, I. Mathijssen⁶, T. Lourenao⁷, J. Morton⁸, E. Sweeney⁹, L. Wilson¹⁰, H. Brunner¹¹, J. Mulliken¹², S. Wall¹³, A. Wilkie¹;
¹Weatherall Institute of Molecular Medicine, Oxford, United Kingdom, ²Department of Plastic and Reconstructive Surgery, School of Medicine, University of Tokushima, Tokushima, Japan, ³Central and Southern Regional Genetic Services, Wellington Hospital, Wellington South, New Zealand, ⁴Yorkshire Regional Genetic Service, St James' University Hospital, Leeds, United Kingdom, ⁵Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands, ⁶Department of Plastic and Reconstructive Surgery, Erasmus MC, Rotterdam, The Netherlands, ⁷Serviço de Genetica Medica, Hospital Dona Estefania, Lisbon, Portugal, ⁸West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, United Kingdom, ⁹Merseyside & Cheshire Clinical Genetics Service, Liverpool Women's Hospital, Liverpool, United Kingdom, ¹⁰North East Thames Regional Genetics Service, The Institute of Child Health, London, United Kingdom, ¹¹Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands, ¹²Craniofacial Centre, Children's Hospital, Boston, MA, United States, ¹³Oxford Craniofacial Unit, Radcliffe Infirmary, Oxford, United Kingdom.